Chapter 16: Eye

Normal vision is a sense that develops during infancy and childhood. Pediatric ophthalmology emphasizes early diagnosis and treatment of pediatric eye diseases in order to obtain the best possible visual outcome. Eye disease in children is not always limited to the ocular system and may be a sign of systemic disease.

Nonspecific signs and symptoms commonly occur as the chief complaint or as an element of the history of a child with eye disease. Five of these findings are described here, along with a sixth—leukocoria—which is less common, but often has serious implications. Do not hesitate to seek the help of a pediatric ophthalmologist when you believe the diagnosis and treatment of these signs and symptoms require in-depth clinical experience.

RED EYE

Redness (injection) of the bulbar conjunctiva or deeper vessels is a common presenting complaint. It may be mild and localized or diffuse and bilateral. Causes include superficial or penetrating foreign bodies, trauma, infection, allergy, and inflammation associated with systemic entities such as Stevens-Johnson syndrome (SJS), uveitis, or Kawasaki disease. Irritating noxious agents also cause injection. Subconjunctival hemorrhage may be traumatic, spontaneous, or may be associated with hematopoietic disease, vascular anomalies, or inflammatory processes. Uncommonly, an injected eye can be due to an intraocular or orbital tumor.

TEARING

Tearing in infants is usually due to nasolacrimal obstruction but may also be associated with congenital glaucoma, in which case photophobia and blepharospasm may also be present. Allergic or viral conjunctivitis or corneal abrasions can cause tearing.

DISCHARGE

Purulent discharge is usually associated with bacterial conjunctivitis. Watery discharge occurs with viral conjunctivitis/keratitis, iritis, and corneal abrasions/foreign bodies. Mucoid discharge may be a sign of allergic conjunctivitis or nasolacrimal obstruction. Infants with nasolacrimal duct obstruction commonly have tearing associated with yellow crusts, but their eye remains white and quiet. A mucoid discharge due to allergy typically contains eosinophils, whereas a purulent bacterial discharge contains polymorphonuclear leukocytes.

PAIN & FOREIGN BODY SENSATION

Pain in or around the eye may be due to foreign bodies, corneal abrasions, lacerations, acute infections of the globe or ocular adnexa, iritis, and elevated eye pressure. Large refractive errors or poor accommodative ability may manifest as headaches and eye strain. Trichiasis (inturned lashes) and contact lens problems also cause ocular discomfort.

PHOTOPHOBIA

Acute aversion to light may occur with corneal abrasions, foreign bodies, and iritis. Squinting of one eye in bright light is a common sign of intermittent exotropia. Photophobia is present in infants with glaucoma, albinism, aniridia, and retinal dystrophies such as achromatopsia. Photophobia is common after ocular surgery and after pharmacologic dilation of the pupil.

LEUKOCORIA

Although not a common sign or complaint, leukocoria (white pupil) is associated with serious diseases and requires prompt ophthalmologic consultation. Causes of leukocoria include cataract, retinoblastoma (RB), retinal detachment, Toxocara infection, Coat’s disease (nonhereditary retinal vascular disorder), and vitreous opacities (Figure 16–1).

Pathogenesis

Refractive error refers to the optical state of the eye (Figure 16–2). The shape of the cornea and, to a lesser extent, the shape of the lens and length of the eye play a role in the refractive state of the eye. Children at particular risk for refractive errors requiring correction with glasses include those who are born prematurely; have Down syndrome; have parents with refractive errors; or have certain systemic conditions such as Stickler, Marfan, or Ehlers-Danlos syndrome.

Diagnosis

There are three common refractive errors: myopia, hyperopia, and astigmatism. High refractive errors or inequality of the refractive state between the two eyes (anisometropia) can cause amblyopia. The refractive state is determined by instrument-based screening or by an eye care professional. Use of the autorefractor in children can overestimate the amount of nearsightedness. Cycloplegia is used to fully relax their accommodation, and the process of retinoscopy is used to determine the accurate refractive error in children.

Treatment

Refractive errors in children are most commonly treated with glasses. An eye care professional can determine if the refractive error requires treatment. Contact lenses are prescribed for children with very high or asymmetrical refractive errors and adolescents who do not want to wear glasses. Laser refractive surgery is not indicated for most children.

MYOPIA (NEARSIGHTEDNESS)

For the myopic or nearsighted individual, objects nearby are in focus; those at a distance are blurred. The onset is typically at about age 8 years and may progress throughout adolescence and young adulthood. A myopic person may squint to produce a pinhole effect, which improves distance vision. Treatment requires glasses or contact lenses. Daily use of low-dose atropine 0.01% eye drops have been shown to slow myopia progression by approximately 50%. Side effects include minimal pupil dilation and loss of accommodation without reduction in visual acuity.

HYPEROPIA (FARSIGHTEDNESS)

Saying that the hyperopic child is sighted for far (not near) vision is somewhat misleading, because the child can focus on near objects through the process of accommodation if the hyperopia is not excessive. Large amounts of uncorrected hyperopia can cause esotropia (crossed eyes) as accommodation and convergence are closely linked. Most young children have hyperopic refraction that diminishes with age and does not require spectacle correction.

ASTIGMATISM

When either the cornea or the crystalline lens is not perfectly spherical, an image will not be sharply focused in one plane. Schematically, there will be two planes of focus. Both of the planes can be either in front of or behind the retina, or one of the planes can be in front of the retina and the other behind it. This refractive state is described as astigmatism. Large amounts of astigmatism can cause amblyopia and is treated with glasses or toric contact lenses.

A history of poor vision, misalignment of the eyes, failed vision screening, eyelid malposition, abnormal pupil reactivity or shape, and an asymmetric/abnormal red reflex requires referral to an ophthalmologist.

The American Academy of Pediatrics (AAP), American Association for Pediatric Ophthalmology and Strabismus (AAPOS), and the American Academy of Ophthalmology (AAO) policy statements for red reflex testing can be accessed at https://www.aao.org/clinical-statement/procedures-evaluation-of-visual-system-by-pediatri.

Prompt detection and treatment of ocular conditions can prevent a lifetime of visual disability. The ophthalmic examination should be a part of every well-child assessment.

It is crucial to check the red reflex of a newborn infant because an abnormal red reflex may be due to a vision or life-threatening condition such as RB or congenital cataracts. Cloudy corneas can also cause abnormal red reflex. Causes of cloudy corneas include congenital glaucoma, Peter’s anomaly, infections, and anterior segment dysgenesis. An infant with an abnormal red reflex requires an urgent referral to an ophthalmologist. Eyelid ptosis (droopy eyelid) that obstructs the visual axis can cause permanent vision loss from deprivation amblyopia and induced astigmatism and warrants a referral to an ophthalmologist. Nasolacrimal duct obstruction that has not resolved by age 1 should also be referred for treatment.

From birth to 3 years of age, the ophthalmic examination should include taking a history for ocular problems, vision assessment, inspection of the eyelids and eyes, pupil examination, ocular motility assessment, and red reflex check. Instrument-based screening may be attempted at this age if available to the practitioner.

The ophthalmic examination of children older than 3 years should include all of the previously mentioned tests and visual acuity testing with eye charts such as Sloan, Snellen, or LEA. Testing of binocular vision, or use of both eyes at the same time, can be accomplished by various stereoacuity tests. Instrument-based screening can identify children with amblyogenic risk factors and are particularly useful in children with language barriers or cognitive delays. See AAPOS.org for vision screening and referral recommendations.

HISTORY

Evaluation begins with the chief complaint and history of the present illness. Elements of the ocular history include onset of the complaint, its duration, whether it is monocular or binocular, previous treatment, and associated systemic symptoms. If an infectious disease is suspected, ask about possible contact with others having similar findings. The history should include prior ocular disease, perinatal and developmental history, history of allergy, and history of familial ocular disorders.

VISUAL ACUITY

Visual acuity testing is the most important test of visual function and should be part of every well-child check. Acuity should be tested in each eye individually, using an adhesive eye patch to prevent peeking. Glasses should be worn during vision screening.

Vision Screening

Vision screening in the pediatric age group is a challenge, especially in younger or developmentally delayed children. Further information on vision screening can be found at AAPOS.org or within policy statements available at AAP.org. Amblyogenic or sight-threatening risk factors screened for include media opacities (cataracts), strabismus (misalignment of the eyes), and refractive errors.

In the sleeping newborn, the presence of a blepharospastic response to bright light is an adequate response. At age 6 weeks, eye-to-eye contact with slow, following movements is usually present. By age 3 months, the infant should demonstrate fixing and following ocular movements for objects at a distance of 2–3 ft. At age 6 months, interest in movement across the room is the norm. Vision can be recorded for the presence or absence of fixing and following behavior, and whether vision is steady (unsteady when nystagmus is present) and maintained when the other eye is uncovered.

Children who can identify or match objects on a chart can provide direct measurements of their visual acuity. This may be possible in children as young as 3 years old, but high degree of success is seen in children of age 4 years and older. Vision is tested first with both eyes open on large optotypes to ensure that the child understands the test. Then, vision should be tested monocularly, preferably with one eye patched (with tape or occlusive patch) to prevent peeking.

Currently preferred optotypes are LEA and HOTV symbols. For those who can identify letters, Snellen or Sloan charts are recommended. Most accurate assessment is obtained when using charts with lines of optotypes or single optotype with crowding bars around it. Using single optotypes without crowding bars can overestimate visual acuity. Crowding bars surrounding an optotype make individual letters more difficult to identify by an amblyopic eye, thus increasing the sensitivity to detect amblyopia.

“Threshold” acuity testing is a time-honored method where children start at the top of an eye chart and read down each line until they can identify the smallest line discernable with each eye tested separately. This method helps identify the best level of visual acuity in each eye and allows the detection of mild difference in acuity between each eye. However, threshold evaluation can be time-consuming and may result in loss of attention in young children.

“Critical line” screening is an effective alternative for identifying children with potentially serious vision problems and can be administered more quickly. The “critical line” is the age-dependent line a child is expected to see and pass. This critical line to pass becomes smaller in size as age increases. Most eye charts have 4–6 optotypes per line. Passing the screening requires the child to correctly answer the majority of the optotypes present on the critical line appropriate for his or her age (Table 16–1).

The practitioner should be aware of two situations in which vision screening is complicated by nystagmus. Children who require a face turn or torticollis (in which the head is tilted to the right or left) to quiet the nystagmus will have poor visual acuity results when tested in the absence of the compensatory head posture. When latent nystagmus is present, acuity testing is particularly challenging (see section Nystagmus). Nystagmus appears or worsens when an eye is occluded, degrading central vision. To minimize the nystagmus, the occluder should be held about 12 inches in front of the eye not being tested. Testing both eyes simultaneously without occlusion often gives a better visual acuity measurement than when either eye is tested individually.

Instrument-based screening modalities including photo screeners and autorefractors are used by various volunteer programs, schools, daycare facilities, and physician offices. Photoscreening does not screen directly for amblyopia but for amblyogenic factors that include strabismus, media opacities, eyelid ptosis, and refractive errors. Autorefractors can determine if there is a significant refractive error present in either eye or if there is a significant difference between the two eyes. Some instruments also detect strabismus, media opacities, pupil abnormalities, and eyelid ptosis. If the screening results suggest an amblyogenic factor, children are referred to an eye care professional for a complete eye examination. Problems exist with sensitivity and specificity of the instruments and poor follow-up for referrals to eye care professionals. If available, instrument-based screening can be initiated beginning at age 12 months. Once children can read, optotype-based acuity should supplement instrument-based testing.

EXTERNAL EXAMINATION

A penlight provides good illumination for inspection of the anterior segment of the globe and its adnexa. A slit lamp provides optimal illumination and magnification for an ocular examination.

In cases of suspected foreign body, pulling down on the lower lid provides excellent visualization of the inferior cul-de-sac (palpebral conjunctiva). Visualizing the upper cul-de-sac and superior bulbar conjunctiva is possible by having the patient look inferiorly, while the upper lid is pulled away from the globe and the examiner peers into the upper recess. Illumination with a penlight is necessary. The upper lid should be everted to evaluate the superior tarsal conjunctiva (Figure 16–3).

When indicated for further evaluation of the cornea, a small amount of fluorescein solution should be instilled into the lower cul-de-sac. A Wood lamp or a blue filter cap placed over a penlight will stain epithelial defects yellow-green. Disease-specific staining patterns may be observed. For example, herpes simplex lesions of the corneal epithelium produce a dendrite or branchlike pattern. A foreign body lodged beneath the upper lid shows one or more vertical lines of stain on the cornea due to the constant movement of the foreign body over the cornea. Contact lens overwear produces a central staining pattern. A fine, scattered punctate pattern may be a sign of viral keratitis or medication toxicity. Punctate erosions of the inferior third of the cornea can be seen with staphylococcal blepharitis or exposure keratitis secondary to incomplete lid closure.

PUPILS

The pupils should be evaluated for reaction to light, regularity of shape, and equality of size as well as for the presence of afferent pupillary defect (APD). This defect, which occurs in optic nerve disease, is evaluated by the swinging flashlight test (see section Diseases of the Optic Nerve). Irregular pupils are associated with iritis, trauma, pupillary membranes, and structural defects such as iris coloboma (see section Iris Coloboma).

Pupils vary in size due to lighting conditions and age. In general, infants have miotic (constricted) pupils. Children have larger pupils than either infants or adults, whereas the elderly have miotic pupils.

Anisocoria, a size difference between the two pupils, may be physiologic if the size difference is within 1 mm and is the same in light and dark. Anisocoria occurs with Horner syndrome, third nerve palsy, Adie tonic pupil, iritis, and trauma. Medication could also cause abnormal pupil size or reactivity. For example, children prescribed topical atropine penalization to treat amblyopia will have a unilateral dilated, unreactive pupil. Systemic antihistamines and scopolamine patches can dilate the pupils and interfere with accommodation (focusing).

ALIGNMENT & MOTILITY EVALUATION

Alignment and motility should be tested because amblyopia is associated with strabismus. Besides alignment, ocular rotations should be evaluated in the six cardinal positions of gaze (Table 16–2; Figure 16–4). A small toy is an interesting target for testing ocular rotations in infants; a penlight works well in older children.

Alignment can be assessed in several ways. In order of increasing accuracy, these methods are observation, the corneal light reflex test, and cover testing. Observation is an educated guess about whether the eyes are properly aligned. Corneal light reflex evaluation (Hirschberg test) is performed by shining a penlight at the patient’s eyes, observing the reflections of each cornea, and estimating whether these “reflexes” appear to be positioned symmetrically. If the reflection of light is noted temporally on the cornea, esotropia is suspected (Figure 16–5). Nasal reflection of the light suggests exotropia (outward deviation). Accuracy of these tests increases with increasing angles of misalignment.

Another way of evaluating alignment is with the cover test, in which the patient fixes on a target while one eye is covered. If an esotropia or an exotropia is present, the deviated eye will make a corrective movement to fixate on the target when the previously fixating eye is occluded. The other eye is tested similarly. When the occluder is removed from the eye just uncovered, a refixation movement of that eye indicates a phoria, or latent deviation, if alignment is reestablished (Figure 16–6). If the uncovered eye picks up fixation and strabismus is still present, that eye can be presumed to be dominant and the nonpreferred eye possibly amblyopic. If the eye remains deviated after the occluder is removed, a tropia is noted to be present. A deviated eye that is blind or has very poor vision will not fixate on a target. Consequently, spurious results to cover testing may occur, which can happen with disinterest on the part of the patient, small-angle strabismus, and inexperience in administering cover tests.

Intermittent strabismus is common in infancy. However, if this persists beyond 4 months of age, referral to ophthalmology is necessary.

Red Reflex Test

Clinical Findings

An ophthalmoscope is used to check the red reflex of both eyes. The examiner should use the largest diameter of light and have the setting at zero. The room should be darkened for maximal pupil dilation. Both pupils are evaluated with the ophthalmoscope at arm’s length from the child with the child looking straight at the light. If the child is looking off to the side, the reflex can be asymmetric. The observed red reflexes should be a light orange-yellow in color in lightly pigmented eyes or a dark red in darkly pigmented brown eyes. A red reflex chart is available through the AAP policy statement on red reflex testing on pediatric patients at AAP.org.

Differential Diagnosis

The red reflex test (Brückner test) is useful for identifying disorders such as media opacities (eg, cataracts), large refractive errors, tumors such as RB, and strabismus.

Treatment

A difference in quality of the red reflexes between the two eyes constitutes a positive Brückner test and requires referral to an ophthalmologist.

OPHTHALMOSCOPIC EXAMINATION

A handheld ophthalmoscope allows visualization of the ocular fundus. As the patient’s pupil becomes more constricted, viewing the fundus becomes more difficult. Although pupillary dilation can precipitate an attack of closed-angle glaucoma in the predisposed adult, children are very rarely predisposed to angle closure. Exceptions include those with a dislocated lens, past surgery, or an eye previously compromised by a retrolental membrane, such as in ROP. Therefore, if an adequate view of the fundus is precluded by a miotic pupil, use of a dilating agent (eg, one drop in each eye of 2.5% phenylephrine or 0.5% or 1% tropicamide) should provide adequate mydriasis (dilation). In infants, one drop of a combination of 1% phenylephrine with 0.2% cyclopentolate (Cyclomydril) is safer. Structures to be observed during ophthalmoscopy include the optic disc, blood vessels, the macular reflex, and retina, as well as the clarity of the vitreous media. By increasing the amount of plus lens dialed into the instrument, the point of focus moves anteriorly from the retina to the lens and finally to the cornea.

OCULAR FOREIGN BODIES

Prevention

Protective goggles or prescription glasses can help prevent ocular injuries and should be encouraged while participating in sports and activities at risk for eye injuries such as grinding metal, hammering, or sawing wood.

Clinical Findings

Foreign bodies on the surface of the globe and palpebral conjunctiva usually cause discomfort, tearing, and a red eye. The history may suggest the origin of the foreign body, such as being around a metal grinder or being outside on a windy day when a sudden foreign body sensation was encountered associated with tearing, redness, and pain. Pain with blinking suggests that the foreign body may be trapped under the eyelid or on the corneal surface.

Magnification with a slit lamp may be needed for inspection. Foreign bodies that lodge on the upper palpebral conjunctiva are best viewed by everting the lid on itself and removing the foreign body with a cotton applicator. The conjunctival surface (palpebral conjunctiva) of the lower lid is easier to visualize.

Differential Diagnosis

Corneal abrasion, corneal ulcer, and globe rupture/laceration.

Complications

Pain, infection, and potential vision loss from scarring.

Treatment

When foreign bodies are noted on the bulbar conjunctiva or cornea (Figure 16–7), removal of the foreign body with irrigation or with a cotton applicator after instillation of a topical anesthetic should be attempted. Referral to an ophthalmologist may be necessary if the aforementioned measures fail to remove the foreign body or if a corneal rust ring secondary to a metallic foreign body is present. Patients should be warned that foreign body sensation may persist for 1–2 days even after removal due to the epithelial defect that occurs after removal. An ophthalmic antibiotic ointment is typically prescribed for several days after foreign body removal.

Prognosis

Usually excellent with prompt treatment.

CORNEAL ABRASION

Pathogenesis

Children often suffer corneal abrasions accidentally while playing with siblings or pets as well as participating in sports. Contact lens users may develop abrasions due to poorly fitting lenses, overnight wear, and use of torn or damaged lenses.

Prevention

Proper contact lens care and parental supervision can prevent activities that can lead to a corneal abrasion.

Clinical Findings

Symptom of a corneal abrasion is sudden and severe eye pain, usually after an inciting event such as an accidental finger poke to the eye. Decreased vision secondary to pain and tearing are common complaints. Eyelid edema, tearing, injection of the conjunctiva, and poor cooperation with the ocular examination due to pain are common signs of a corneal abrasion. Fluorescein dye is instilled into the eye and a cobalt blue or Wood lamp is used to illuminate the affected eye. The area with the abrasion will stain bright yellow-green.

Differential Diagnosis

Ocular or adnexal foreign bodies, corneal ulcer, and corneal laceration.

Complications

Possible vision loss from corneal infection and scarring.

Treatment

Ophthalmic ointment, such as erythromycin ointment, lubricates the surface of the cornea and also helps prevent infections. Patching the affected eye when a large abrasion is present may provide comfort, but it is not advised for corneal abrasions caused by contact lens wear or other potentially contaminated sources. Frequent follow-up is required until healing is complete.

Prognosis

Excellent if corneal infection and scarring do not occur.

INTRAOCULAR FOREIGN BODIES & PERFORATING OCULAR INJURIES

Pathogenesis

Intraocular foreign bodies and penetrating injuries are most often caused by being in close proximity to high-velocity projectiles such as windshield glass broken during a motor vehicle accident, metal grinding without use of protective safety goggles, BB gun injury, and improperly detonated fireworks.

Prevention

Use protective eyewear when engaging in activities that may be a risk for ocular injury.

Clinical Findings

Sudden ocular pain with vision loss occurs; multiple-organ trauma may be present in the case of severe trauma.

Intraocular foreign bodies and corneal or scleral lacerations (ruptured globe) require emergency referral to an ophthalmologist. The diagnosis may be difficult if the obvious signs of corneal perforation (shallow anterior chamber with hyphema, traumatic cataract, and irregular pupil) are not present (Figure 16–8). Furthermore, nonradiopaque materials such as glass will not be seen on imaging.

Computed tomographic (CT) scan is useful in evaluating ocular trauma, including bony injury and intraocular foreign bodies. Magnetic resonance imaging (MRI) must be avoided if a magnetic foreign body is suspected.

Differential Diagnosis

Corneal abrasion and superficial foreign body of the eye or eyelids.

Complications

Vision loss, traumatic cataract, retinal detachment, intraocular infection, and loss of the eye.

Treatment

In cases of suspected intraocular foreign body or perforation of the globe, it may be best to keep the child at rest, gently shield the eye with a metal shield or cut-down paper cup, and keep the extent of examination to a minimum to prevent expulsion of intraocular contents. In this setting, the child should be given nothing by mouth in case eye examination under anesthesia or surgical repair is required.

Prognosis

Prognosis depends on the extent of the trauma.

BLUNT ORBITAL TRAUMA

Pathogenesis

Trauma to the orbit from a closed fist, collision with another player during team sports, and falls are common causes of blunt orbital injuries. Orbital compartment syndrome, which may result from severe orbital trauma, is caused by hemorrhaging within the orbit or severe orbital edema (or both). This is an emergency which may lead to permanent vision loss if not treated urgently.

Prevention

Protective eyewear during athletic activities and adequate supervision of children at home and school.

Clinical Findings

Blunt trauma to the orbit may result in orbit fractures. The orbital floor is a common location for a fracture (called a blowout fracture). A specific fracture that occurs mainly in children after blunt orbit trauma is called the white-eyed blowout fracture. This results from a greenstick fracture of the orbit with entrapment of orbital contents within the fracture. It is called “white-eyed” because the external orbital soft tissue injury may appear to be minimal. The only abnormality on examination may be restricted eye movements, especially upward. Entrapment of orbital contents often stimulates the oculo-cardiac reflex resulting in bradycardia and emesis.

A blowout fracture must be suspected in a patient with symptoms of double vision, pain with eye movements, and restriction of extraocular muscle movements after blunt orbital trauma. CT images of an orbital floor fracture often reveal herniation of orbital fat or the inferior rectus muscle into the maxillary sinus. Assessment of ocular motility, globe integrity, and intraocular pressure will determine the extent of the blunt orbital injury. Consultation with an ophthalmologist is necessary to determine the full spectrum of the injuries.

Orbital compartment syndrome is an emergency requiring immediate treatment. Patients present with severe eyelid edema and proptosis. With true orbital compartment syndrome, eyelids will be too tight to open even with fingers or instruments because of the pressure from behind the orbit. Neuroimaging will show retrobulbar hemorrhage and proptosis.

Differential Diagnosis

Orbit fracture with or without muscle entrapment, globe rupture, orbital compartment syndrome, and traumatic or ischemic optic neuropathy.

Treatment

Orbital compartment syndrome requires emergent lateral eyelid canthotomy and cantholysis to decompress the orbit. Treatment should not be delayed in order to image the orbits. Prompt treatment can prevent permanent vision loss.

Patients with clinical signs of muscle entrapment require urgent surgical repair to avoid permanent ischemic injury to the involved extraocular muscle. Large fractures may need repair to prevent enophthalmos, a sunken appearance to the orbit. This can usually be performed on a nonemergent basis. Patients with any orbital fracture must be warned not to blow their nose as it can cause orbital emphysema and worsening proptosis.

Cold compresses or ice packs for brief periods (eg, 10 minutes at a time) are recommended in older children in the first 24 hours after injury to reduce hemorrhage and swelling.

Prognosis

The prognosis depends on the severity of the blunt trauma, associated ocular injuries, and extent of the orbit fractures.

LACERATIONS

Pathogenesis

Lacerations of the eyelids and lacrimal system often result from dog bites, car accidents, falls, and fights.

Prevention

Supervision of children at home and at school.

Clinical Findings

Eyelid lacerations may be partial or full thickness in depth. The eyelid margin or canaliculus may be involved. Foreign bodies, such as glass or gravel, may be present depending on the mechanism of the injury.

Differential Diagnosis

Lacerations involving the eyelid may or may not involve the nasolacrimal duct system or eyelid margin. Globe injury may be associated with eyelid lacerations as well.

Complications

Poor surgical repair of lacerations of the eyelid margin can result in eyelid malposition, which causes chronic ocular surface irritation and possible corneal scarring.

Treatment

Except for superficial lacerations away from the globe, repair in children is best performed under sedation or in the operating room under general anesthesia. Special consideration must be given to lacerations involving the lid margin, significant tissue loss, full-thickness lacerations, lacerations that may involve the levator muscle in the upper lid, and to those that may involve the canaliculus (Figure 16–9). These injuries are best repaired by an ophthalmologist and may require intubation of the nasolacrimal system with silicone tubes.

Prognosis

Prognosis depends on severity of the injury, tissue loss, and adequacy of surgical repair.

BURNS

Pathogenesis

Chemical burns with strong acidic and alkaline agents can be blinding and constitute a true ocular emergency. Examples are burns caused by exploding batteries, spilled drain cleaner, and bleach. Burns of the conjunctiva and cornea may be thermal, radiant, or chemical. Radiant energy causes ultraviolet keratitis. Typical examples are welder’s burn and burns associated with skiing without goggles in bright sunlight. In addition to thermal and blunt trauma, chemical eye injury can occur from airbag deployment as a result of alkaline burn due to the chemical components of the inflation reaction. Alkalis tend to penetrate deeper than acids into ocular tissue and often cause severe injury.

Prevention

Protective eyewear when engaging in activities that pose a potential risk for exposure to hazardous chemicals, radiant energy, or when explosive conditions are possible.

Clinical Findings

Superficial thermal burns cause pain, tearing, and injection. Corneal epithelial defects can be diagnosed using fluorescein dye, which will stain areas of the cornea bright yellows green where the epithelium is absent. Conjunctiva may be injected diffusely. In severe burns, there is relative lack of redness around the cornea indicative of perilimbal ischemia. Eyelashes may be singed due to thermal burns. The fluorescein dye pattern will show a uniformly stippled appearance of the corneal epithelium in ultraviolet keratitis. It is important to check the pH after any suspected chemical burn injury including airbag deployment.

Differential Diagnosis

Corneal abrasion, foreign body, and traumatic iritis.

Complications

Significant corneal injury, especially if associated with an alkali burn, may lead to scarring and vision loss. Eyelid scarring can result in chronic exposure, dry eye, irritation, and entropion or ectropion.

Treatment

Immediate treatment consists of copious irrigation and removal of precipitates as soon as possible after the injury. Irrigation should be continued until the pH is close to 7. Initial stabilization of the injury is initiated by using topical antibiotics. A cycloplegic agent such as cyclopentolate 1% may be added. This reduces the pain from ciliary spasm and iritis that may accompany the injury. The patient should be referred to an ophthalmologist after immediate first aid has been given.

Prognosis

Prognosis depends on the severity of the injury.

HYPHEMA

Pathogenesis

Blunt trauma to the globe may cause a hyphema, or bleeding within the anterior chamber, from a ruptured vessel located near the root of the iris or in the anterior chamber angle (see Figure 16–10).

Prevention

Protective eyewear and appropriate supervision at home and at school.

Clinical Findings

Blunt trauma severe enough to cause a hyphema may be associated with additional ocular injury, including iritis, lens subluxation, cataract, retinal edema or detachment, and ruptured globe. It is important to note the height and color of the hyphema. Most will be layered inferiorly but be seen as a clot over the iris. Total hyphema (100%) may appear black or red. A black total hyphema is referred to as “8-ball hyphema.” The black color is suggestive of impaired aqueous circulation and decreased oxygen concentration. This distinction is important because an 8-ball hyphema is more likely to cause pupillary block and secondary angle closure. In patients with sickle cell anemia or trait, even a small amount of hyphema can lead to significantly elevated intraocular pressure that can result in permanent vision loss. Therefore, all African Americans whose sickle cell status is unknown should be tested if hyphema is observed. These patients require extra vigilance in diagnosing and treating hyphema.

Differential Diagnosis

Nontraumatic causes of hyphema include juvenile xanthogranuloma and blood dyscrasias. Rarely, hyphema is noted in the newborn after a stressful birth.

Complications

Increased intraocular pressure, glaucoma, permanent corneal staining, and vision loss.

Treatment

A shield should be placed over the eye, the head elevated, and arrangements made for ophthalmologic referral.

Prognosis

Majority of children with isolated traumatic hyphema do well with outpatient treatment, activity restriction, and close follow up with an ophthalmologist. Prognosis is worse if intraocular pressure is elevated, the patient has sickle cell disease, or if other associated ocular injuries are present.

ABUSIVE HEAD TRAUMA & NONACCIDENTAL TRAUMA

Pathogenesis

Abusive head trauma includes shaking as a mechanism of injury, shaking with impact, or impact alone. The most widely accepted theory is that retinal hemorrhages occur due to the vitreoretinal traction from accelerating-decelerating forces from shaking alone or combined with impact. Additional injury may result from spinal cord injuries and hypoxia.

Clinical Findings

Victims often have multiple-organ system involvement that includes, but is not limited to, traumatic brain injury, bone fractures, and retinal hemorrhages. The presentation can include irritability, change in mental status, or cardiopulmonary arrest.

Ophthalmic consultation and a dilated retinal examination are necessary to document retinal hemorrhages. Hemorrhages may be unilateral or bilateral and may be located in the posterior pole or periphery. Often, retinal hemorrhages are multilayered (intraretinal, preretinal, and subretinal), too numerous to count, and diffuse. Intraretinal hemorrhages may resolve rapidly within days, whereas preretinal or vitreous hemorrhages can take time. If a blood clot lies over the macula, deprivation amblyopia may occur and may require intraocular surgery by a retinal specialist. Other ocular findings associated with abusive head trauma include lid ecchymosis, subconjunctival hemorrhage, hyphema, retinal folds, retinoschisis (traumatic separation of the retinal layers), and optic nerve edema.

Differential Diagnosis

The differential diagnosis of retinal hemorrhages includes birth trauma (in < 1 month old), sepsis, blood dyscrasia, and severe crush injuries or high-velocity trauma. A team effort between the primary treating physician, neurosurgery, orthopedics, ophthalmology, social services, and law enforcement is crucial in determining the true cause of a patient’s injuries.

Complications

The severity of injuries dictates the long-term outcome. Persistent hemorrhages involving the macula can lead to amblyopia. Often, poor vision results from cortical visual impairment in patients with severe neurologic injuries.

Treatment

Management of any systemic injuries is required. Observation by an ophthalmologist for resolution of retinal hemorrhages is the usual management. Vitreous hemorrhages or large preretinal hemorrhages that do not resolve within several weeks may need surgical treatment by a retinal specialist.

Prognosis

Prognosis depends on the severity of ocular and brain injuries.

PREVENTION OF OCULAR INJURIES

Air rifles, paintballs, and fireworks are responsible for many serious eye injuries in children. Golf, baseball/softball, and lacrosse injuries are common and can be very severe. Bungee cords can also lead to severe ocular injury. Safety/sport goggles or prescription glasses should be used while in laboratories and industrial arts classes, and when operating snow blowers, power lawn mowers, and power tools, using hammers and nails or while participating in organized sports. The one-eyed individual should be specifically advised to always wear polycarbonate eyeglasses and goggles for all sports. High-risk activities such as boxing and the martial arts should be avoided by one-eyed children.

DISEASES OF THE EYELIDS

The eyelids can be affected by various dermatologic and infectious conditions.

Blepharitis/Blepharokeratoconjunctivitis

Pathogenesis

Blepharitis is caused by inflammation of the eyelid margin, meibomian gland obstruction, and tear film imbalance. The term blepharokeratoconjunctivitis (BKC) is used when the conjunctiva and cornea are affected by chronic inflammation. Meibomian glands, located in the eyelids, secrete the lipid layer of tear film. BKC is a chronic disorder with exacerbations. Dysfunction of these glands have been implicated as part of the cause of blepharitis. Bacterial flora on lid margins secrete enzymes that can further destabilize the tear film. Higher numbers of Staphylococcus aureus and Staphylococcus epidermis have been cultured in patients with BKC.

Prevention

Eyelid hygiene is essential to prevent or control blepharitis. Eyelid scrubs with baby shampoo help decrease the bacterial load on the eyelid margins and lashes. Warm compresses help loosen the secretions of the meibomian glands.

Clinical Findings

Patients commonly present with concerns of redness, tearing, photophobia, and foreign body sensation. They may have decreased vision. Diagnosis is clinical with examination findings of the lid margin (thickening, telangiectasia, stye, crusting), meibomian gland dysfunction, conjunctival injection, and corneal changes (punctate keratitis, corneal opacities, vascularization, ulceration, thinning, and scarring). Corneal scarring, if present, is usually peripheral and inferior but can be diffuse and central in severe cases. Children may have hallmark cutaneous findings of rosacea.

Differential Diagnosis

Allergic or viral conjunctivitis. Herpes keratitis is the most frequent misdiagnosis. Recurrent unilateral keratoconjunctivitis with decreased corneal sensation is a characteristic of herpes keratitis.

Complications

Permanent corneal and eyelid margin scarring in severe cases.

Treatment

Lid treatment is essential including lid scrubs with baby shampoo and warm compresses to the eyelids (wet towel or microwavable heat packs). Topical and oral antibiotics can be used to decrease the bacterial burden. These include erythromycin ointment, azithromycin drops, and oral tetracycline for older children and macrolides for younger children. Topical steroids may be required to treat the inflammation and requires close followup with an ophthalmologist.

Prognosis

Generally good unless they develop significant corneal scarring.

Chalazion

Pathogenesis

Obstruction of the eyelid margin meibomian glands with resultant inflammation, fibrosis, and lipogranuloma formation.

Prevention

See section Blepharitis.

Clinical Findings

Eyelid nodule of variable size and localized erythema of the corresponding palpebral conjunctiva that may be associated with a yellow lipogranuloma (Figure 16–11). It is a nontender, painless lesion.

Differential Diagnosis

Hordeolum (acute abscess that is often painful), blepharitis.

Treatment

See section Blepharitis. If incision and curettage are needed because the lesion is slow to resolve, the child will often require a general anesthetic. Topical azithromycin (ophthalmic solution 1%) may also help decrease recurrence of chalazion.

Prognosis

Generally good.

VIRAL EYELID DISEASE

Pathogenesis

Herpes simplex virus (HSV) may involve the conjunctiva and lids at the time of primary herpes simplex infection resulting in blepharoconjunctivitis. Vesicular lesions with an erythematous base occur. Herpes zoster causes vesicular disease in association with a skin eruption in the dermatome of the ophthalmic branch of the trigeminal nerve. Molluscum contagiosum lesions are typically umbilicated papules. If near the lid margin, the lesions may cause conjunctivitis.

Prevention

Avoid contact with individuals with active viral infections.

Clinical Findings

A vesicular rash is the most common sign of herpes viral eyelid infection. Fluorescein dye should be administered topically to the affected eye followed by examination with a cobalt blue light to assess for the presence of dendrites. When vesicles are present on the tip of the nose with herpes zoster (Hutchinson sign), ocular involvement, including iritis, is more likely. Eyelid edema in herpes zoster ophthalmicus can be severe and can be mistaken for preseptal cellulitis. Herpes simplex or herpes zoster can be diagnosed by polymerase chain reaction or viral culture.

Differential Diagnosis

Impetigo.

Complications

Conjunctivitis and keratitis (corneal infection).

Treatment

Herpes simplex blepharoconjunctivitis can be treated with systemic acyclovir, valacyclovir, or famciclovir. An alternative includes topical 1% trifluridine or 3% vidarabine. Topical treatments can cause corneal irritation with excessive or prolonged use.

Treatment of ophthalmic herpes zoster with systemic nucleoside analogues within 3 days after onset may reduce the morbidity.

Molluscum contagiosum lesions may be treated with observation, cautery, or excision.

Prognosis

Generally good unless corneal involvement is present.

MISCELLANEOUS EYELID INFECTIONS

Pediculosis

Pediculosis of the lids (phthiriasis palpebrarum) is caused by Phthirus pubis. Nits and adult lice can be seen on the eyelashes when viewed with appropriate magnification. Mechanical removal as well as medical treatment is effective (see Chapter 15). Other bodily areas of involvement must also be treated if involved. Family members and contacts may also be infected.

Papillomavirus

Papillomavirus may infect the lid and conjunctiva. Warts may be recurrent, multiple, and difficult to treat. Treatment modalities include cryotherapy, cautery, carbon dioxide laser, and surgery.

Staphylococcal Infection

Localized staphylococcal infections of the glands of Zeis/Moll (external) or meibomian glands (internal) within the lid cause a stye (hordeolum) (Figure 16–12). When the infection coalesces and points internally or externally, it may discharge itself or require incision. The lesion is tender and red. It can lead to preseptal cellulitis. Warm compresses help to shorten the acute process. Some practitioners prescribe a topical antibiotic ointment. Any coexisting blepharitis should be treated. Oral antibiotics is indicated in the presence of associated preseptal cellulitis.

EYELID PTOSIS

Pathogenesis

Eyelid ptosis—a droopy upper lid (Figure 16–13)—may be congenital or acquired but is usually congenital in children owing to a defective levator muscle. Other causes of ptosis are myasthenia gravis, lid injuries, third nerve palsy, and Horner syndrome (see section Horner Syndrome). Marcus Gunn jaw-winking phenomenon is a congenital ptosis associated with synkinetic movements of the upper eyelid and muscles of mastication. Intermittent reduction of the ptosis occurs during mastication or sucking due to a synkinesis or simultaneous firing of the external or internal pterygoid muscle (innervated by the trigeminal nerve) and the levator muscle (innervated by the oculomotor nerve). Ptosis can lead to amblyopia from deprivation or from significant astigmatism that is induced by the droopy eyelid.

Clinical Findings

Ptosis can be unilateral or bilateral. If severe, ptosis may obscure the pupil. The child may have an abnormal chin up position to compensate for the ptosis. It is important to note the extraocular motility and check for anisocoria in any child with ptosis.

Differential Diagnosis

Congenital ptosis, traumatic ptosis, neurogenic ptosis (oculomotor nerve palsy), Horner syndrome.

Complications

Deprivation amblyopia and induced astigmatism.

Treatment

Children with ptosis should be monitored for development of amblyopia. They may require correction of refractive error. Surgical correction is indicated for moderate to severe ptosis. Cosmesis may be better if surgery is delayed until most of the facial growth has occurred, usually around age 5 years.

Prognosis

The prognosis depends on the presence of amblyopia and whether it is adequately treated.

HORNER SYNDROME

Pathogenesis

The syndrome is caused by an abnormality or lesion to the sympathetic chain. The congenital variety is most commonly the result of birth trauma. Acquired cases may occur in children who have had cardiothoracic surgery, trauma, neoplasm, or brainstem vascular malformation. Most worrisome is a Horner syndrome caused by neuroblastoma of the sympathetic chain in the apical lung region.

Prevention

Sympathetic chain injury avoidance during cardiothoracic surgery and delivery.

Clinical Findings

Parents may notice unequal pupils or different colored eyes. Penlight examination of the eyes may reveal unequal pupils (anisocoria), iris heterochromia, and eyelid ptosis of the affected eye.

The affected pupil is smaller in size and the difference is most pronounced when compared in the dark. The ptosis is usually mild with a well-defined upper lid crease. This differentiates it from congenital ptosis, which typically has a poorly defined lid crease. A key finding of congenital Horner syndrome is heterochromia of the two irides, with the lighter colored iris occurring on the same side as the lesion (Figure 16–14). Anhidrosis can occur in congenital and acquired cases. Of note, not all of the three signs must be present to make the diagnosis.

Pharmacologic assessment of the pupils with topical cocaine and hydroxyamphetamine will help determine whether the Horner syndrome is due to a preganglionic or postganglionic lesion of the sympathetic chain. Apraclonidine may be a more practical drug to use in the diagnosis of Horner syndrome. Use of apraclonidine in infants and young children can lead to lethargy and bradycardia. Physical examination, including palpation of the neck and abdomen for masses, and MRI of structures in the head, neck, chest, and abdomen should be considered. Spot urine vanillyl mandelic acid/creatinine ratio may be helpful.

Differential Diagnosis

Congenital or neurogenic ptosis and physiologic anisocoria.

Complications

Prognosis depends on the etiology. Ptosis associated with Horner syndrome is usually mild and rarely results in amblyopia.

Treatment

Management of any underlying disease is required. The ptosis and vision should be monitored by an ophthalmologist.

Prognosis

Prognosis depends on the etiology. The vision is usually normal.

EYELID TICS

Eyelid tics may occur as a transient phenomenon lasting several days to months. Although a tic may be an isolated finding in an otherwise healthy child, it may also occur in children with multiple tics, attention-deficit/hyperactivity disorder, or Tourette syndrome. Caffeine consumption may cause or exacerbate eyelid tics. If the disorder is a short-lived annoyance, no treatment is needed.

NASOLACRIMAL DUCT OBSTRUCTION

Pathogenesis

Obstruction in any part of the drainage system may result from either incomplete canalization of the duct or membranous obstructions. Nasolacrimal obstruction is more commonly seen in individuals with craniofacial abnormalities or Down syndrome.

Prevention

Not applicable.

Clinical Findings

Nasolacrimal duct obstruction can be unilateral, bilateral, and asymmetric in severity. Signs and symptoms include tearing (epiphora) or mucoid discharge from the affected eye(s), especially in the morning, and erythema of one or both lids (Figure 16–15). The conjunctiva is usually white and quiet, distinguishing it from infectious conjunctivitis.

Differential Diagnosis

The differential diagnosis of tearing includes congenital glaucoma, foreign bodies, nasal disorders, and, in older children, allergies. Light sensitivity and blepharospasm suggest possible congenital glaucoma and warrant an urgent ophthalmic referral.

Complications

Dacryocystitis, orbital cellulitis, sepsis, and respiratory distress.

Treatment

Massage over the nasolacrimal sac may empty debris from the nasolacrimal sac and clear the obstruction, although the efficacy of massage in clearing nasolacrimal obstruction is debated. Superinfection may occur and can be treated with topical antibiotics.

The mainstay of surgical treatment is probing, which is successful 80% or more of the time. Other surgical procedures, including infraction of the inferior nasal turbinate and balloon dilation. Silicone tube intubation, may be necessary if probing fails or in children with craniofacial abnormalities or Down syndrome. Much less often, dacryocystorhinostomy is required.

Prognosis

Generally good with surgical treatment.

CONGENITAL DACRYOCYSTOCELE

Pathogenesis

Congenital dacryocystocele is thought to result from obstructions proximal and distal to the nasolacrimal sac.

Prevention

Early intervention with nasolacrimal duct probing may prevent dacryocystitis.

Clinical Findings

At birth, the nasolacrimal sac is distended and has a bluish hue that often leads to an erroneous diagnosis of hemangioma. The tense and swollen sac displaces the medial canthus superiorly (Figure 16–16). Digital pressure over the nodule may result in reflux of tears, mucus, or purulent discharge from the inferior eyelid punctum. An intranasal duct cyst may be present beneath the inferior turbinate. These cysts may lead to respiratory distress, especially if present bilaterally.

Differential Diagnosis

Eyelid hemangioma and basal encephalocele.

Complications

Dacryocystitis, orbital cellulitis, sepsis, and respiratory distress.

Treatment

Massage and warm compresses are rarely effective. Nasolacrimal duct probing and endoscopic marsupialization of the intranasal cyst under general anesthesia may be required. In the presence of dacryocystitis, hospital admission and use of systemic antibiotics prior to probing is advised to monitor respiratory status and to reduce the rate of probing-induced bacteremia. Consultation with an ear, nose, and throat specialist is recommended to aid in the diagnosis and treatment of an associated intranasal cyst.

Prognosis

Generally good.

DACRYOCYSTITIS

Pathogenesis

Acute dacryocystitis is most commonly caused by S aureus followed by Streptococcus pneumoniae, and Haemophilus species. Rare causes of fungal or viral infections have been reported. Pediatric acute dacryocystitis can be categorized into four groups which are managed differently: acute dacryocystitis in neonates with dacryocystocele, dacryocystitis with periorbital cellulitis, dacryocystitis post facial trauma, and dacryocystitis associated with orbital abscess.

Prevention

Treatment of nasolacrimal duct obstruction.

Clinical Findings

Acute dacryocystitis presents with inflammation, swelling, tenderness, and pain over the lacrimal sac (located inferior to the medial canthal tendon). Fever may be present. The infection may point externally (Figure 16–17). A purulent discharge within the lacrimal sac may reflux with sac pressure.

Chronic dacryocystitis and recurrent episodes of low-grade dacryocystitis are caused by nasolacrimal obstruction.

Differential Diagnosis

Dacryocystocele and preseptal cellulitis.

Complications

Preseptal cellulitis, orbital cellulitis, and sepsis.

Treatment

Management of acute dacryocystitis depends on the category. All acute types will require systemic antibiotics. Dacryocystitis associated with dacryocystocele in neonates are managed by probing with or without marsuplialization of intranasal cysts. Dacryocystitis with periorbital cellulitis is treated with probing after the acute episode. Those that occur from facial trauma often require dacryocystorhinosctomy (DCR) with stents. Those complicated by orbital abscess require simultaneous abscess drainage with probing and stent placement.

Warm compresses are beneficial to help express discharge from the lacrimal sac.

Prognosis

Generally good.

Conjunctivitis may be infectious, allergic, or associated with systemic disease. Trauma and intraocular inflammation can cause injection of conjunctival vessels that can be confused with conjunctivitis.

OPHTHALMIA NEONATORUM

Pathogenesis

Pathogenesis may be due to inflammation resulting from silver nitrate prophylaxis given at birth, bacterial infection (gonococcal, staphylococcal, pneumococcal, or chlamydial), or viral infection. In developed countries, Chlamydia is the most common cause. Neonatal conjunctivitis may lead to rapid corneal perforation if caused by Neisseria gonorrhoeae. Herpes simplex is a rare but serious cause of neonatal conjunctivitis.

Prevention

Treatment of maternal infections prior to delivery can prevent ophthalmia neonatorum. Although no single prophylactic medication can eliminate all cases of neonatal conjunctivitis, povidone-iodine may provide broader coverage against the organisms causing this disease. Silver nitrate is not effective against Chlamydia and can cause chemical conjunctivitis. The choice of prophylactic agent is often dictated by local epidemiology and cost considerations, but erythromycin ophthalmic ointment is most often routinely administered immediately after birth to help prevent ophthalmia neonatorum.

Clinical Findings

Ophthalmia neonatorum is characterized by redness, discharge, and swelling of the lids and conjunctiva (Figure 16–18). Gram staining, polymerase chain reaction amplification for Chlamydia and HSV, and bacterial and viral cultures aid in making an etiologic diagnosis. Neonates may have systemic manifestations of disease.

Differential Diagnosis

Chemical/toxic conjunctivitis, viral conjunctivitis, bacterial conjunctivitis.

Complications

Chlamydia can cause a delayed-onset pneumonitis. Gonococcal infections can cause blindness through endophthalmitis, and can cause sepsis.

Treatment

Treatment of these infections requires specific systemic antibiotics. Parents should be examined and receive treatment when a sexually associated pathogen is present. They need close monitoring by an ophthalmologist due to the risk of corneal involvement that can lead to permanent vision loss.

Prognosis

Prognosis depends on the infectious agent as well as the rapidity of treatment.

BACTERIAL CONJUNCTIVITIS

Pathogenesis

Common bacterial causes of conjunctivitis in older children include Haemophilus species, S pneumoniae, M catarrhalis, and S aureus.

Prevention

Hand-washing and contact precautions.

Clinical findings

Purulent discharge and conjunctival injection of one or both eyes. These symptoms may be associated with an upper respiratory infection. Regional lymphadenopathy is not a common finding in bacterial conjunctivitis except in cases of oculoglandular syndrome due to S aureus, group A β-hemolytic streptococci, Mycobacterium tuberculosis or atypical mycobacteria, Francisella tularensis (the agent of tularemia), and Bartonella henselae (the agent of cat-scratch disease).

Differential Diagnosis

Viral, allergic, traumatic, or chemical/toxic conjunctivitis.

Complications

Bacterial conjunctivitis is usually self-limited unless caused by Chlamydia trachomatis, N gonorrhoeae, and Neisseria meningitidis which may have systemic manifestations.

Treatment

If conjunctivitis is not associated with systemic illness, topical antibiotics such as erythromycin, polymyxin-bacitracin, aminoglycosides, and fluoroquinolones may be helpful in hastening the resolution of symptoms. Using a delayed treatment strategy (waiting 3 days for spontaneous improvement) before use of antibiotics may prevent unnecessary medication. Systemic therapy in addition to topical treatment is recommended for conjunctivitis associated with C trachomatis, N gonorrhoeae, and N meningitidis.

Prognosis

Generally good.

VIRAL CONJUNCTIVITIS

Pathogenesis

Adenovirus infection is often associated with pharyngitis, a follicular reaction and injection of the palpebral conjunctiva, and preauricular adenopathy (pharyngoconjunctival fever). Epidemics of adenoviral keratoconjunctivitis occur. Conjunctivitis may also be due to enterovirus and occurs as part of an acute measles illness. HSV may cause blepharoconjunctivitis.

Prevention

Hand-washing and contact precautions.

Clinical Findings

Watery discharge associated with conjunctival injection of one or both eyes. Significant eyelid edema can occur. A vesicular rash involving the eyelids or face suggests HSV or herpes zoster.

Differential Diagnosis

Bacterial, allergic, traumatic, or chemical/toxic conjunctivitis.

Complications

Generally, viral conjunctivitis is self-limited. Cornea may be involved in epidemic keratoconjunctivitis that may prolong the course of disease. Herpes conjunctivitis may be associated with keratitis or retinal involvement.

Treatment

Treatment of adenovirus conjunctivitis is supportive. Children with presumed adenoviral keratoconjunctivitis are considered contagious 10–14 days from the day of onset. They should stay out of school and group activities as long as their eyes are red and tearing. Strict hand-washing precautions are recommended. In severe cases with cornea involvement, a short course of topical steroids can improve the symptoms. However, steroids can also prolong the duration of disease. Steroids should only be used when it is certain that HSV is not the cause.

Herpes conjunctivitis can be treated with topical or oral antivirals (see Section Viral Keratitis).

Prognosis

Generally good.

ALLERGIC CONJUNCTIVITIS

Prevention

Decrease exposure to allergens.

Clinical Findings

The history of itchy, watery, and red eyes is essential in making the diagnosis of allergic conjunctivitis. Vernal keratoconjunctivitis (VKC) is a more severe form of allergic conjunctivitis occurring mostly in the spring and summer that is associated with intense tearing, itching, and a stringy discharge. VKC is more common in males and may present with giant cobblestone papillae (Figure 16–19) on the tarsal conjunctiva, follicular nodules around the corneal limbus, and even sterile corneal ulcers (shield ulcers) due to rubbing of the giant papillae against the corneal surface. Contact lens wear may induce a giant papillary conjunctivitis that appears similar to the palpebral form of vernal conjunctivitis.

Treatment

Topical ophthalmic solutions that combine both an antihistamine and mast cell stabilizer including olopatadine 0.1%, epinastine HCl 0.05%, or ketotifen fumarate 0.025%, are very effective at treating allergic conjunctivitis. Other agents available include a combination topical vasoconstrictor plus an antihistamine (naphazoline antazoline), a nonsteroidal anti-inflammatory drug (NSAID) such as ketorolac tromethamine 0.5%, a mast cell stabilizer such as lodoxamide tromethamine 0.1%, or a corticosteroid such as prednisolone 0.125% (Table 16–3). Corticosteroids should be used with caution because their extended use causes glaucoma or cataracts. Topical antibiotics are used to prevent secondary infections in those with shield ulcers. Systemic antihistamines and limitation of exposure to allergens may help reduce symptoms as well.

Prognosis

Generally good.

MUCOCUTANEOUS DISEASES

Pathogenesis

Erythema multiforme, and toxic epidermal necrolysis (TEN) may be caused by medications including sulfonamides, anticonvulsants, penicillins/cephalosporins, NSAID, and allopurinol. An infectious cause is considered if signs of infection started 1 week prior to the onset of the rash and a titer or cold agglutinins (IgM) of the infectious agent are positive. The two most common infectious etiologies are Mycoplasma pneumoniae and herpes simplex virus.

Clinical Findings

Eye involvement can vary in severity from self-limited mild conjunctivitis to sloughing of the entire mucosal surface. Intense inflammation can lead to formation of pseudomembrane, frank membrane, and corneal ulceration. Conjunctival ulceration can result in fusion of bulbar and forniceal surfaces leading to permanent symblepharon (adhesions between conjunctiva), ankyloblepharon (adhesions between eyelids), and lid malposition. The extent of epithelial cell loss of ocular surface is visualized with flurorescein staining. Patients require daily examinations by ophthalmologists. The severity of ocular involvement may not correlate with systemic skin and mucocutaneous manifestations.

Differential Diagnosis

Viral or bacterial conjunctivitis until the diagnosis of EM/SJS/TEN is apparent.

Complications

Severe ocular involvement can result in permanent scarring of the conjunctiva leading to eyelid malposition, trichiasis (misdirected eyelashes), and vision loss and blindness from chronic ocular irritation and extreme tear film deficiency.

Treatment

Management of acute ocular SJS involves controlling the intense ocular surface inflammation. Treatment of the underlying disease, including discontinuation of offending medications and use of appropriate antimicrobials as necessary. Aggressive ophthalmic treatment should be initiated as soon as possible, including use of lubrication, topical corticosteroids, topical cyclosporine, and topical antibiotics. Extensive sloughing requires urgent amniotic membrane transplants (AMT) to the lid margins and conjunctiva within the first weeks of illness in order to prevent chronic ocular complications.

Prognosis

Prognosis depends on the severity of the underlying condition. Visual prognosis can be excellent with early medical and surgical treatment.

IRIS COLOBOMA

Clinical Findings

Penlight examination of the pupils reveals a keyhole shape to the pupil rather than the normal round configuration (Figure 16–20). A dilated examination by an ophthalmologist is necessary to determine if the coloboma involves additional structures of the eye including the optic nerve and retina, in which case vision can be affected. A genetic evaluation is usually recommended due to the high rate of associated genetic syndromes.

Differential Diagnosis

Anterior segment dysgenesis, aniridia, and previous iris trauma.

Complications

Low vision and rarely a secondary retinal detachment from chorioretinal coloboma.

Treatment

Patients with coloboma should be monitored by an ophthalmologist for signs of amblyopia, significant refractive errors, and strabismus.

Prognosis

The prognosis depends on whether there are other ocular structures involved. Visual acuity is guarded if a large retinal coloboma is present.

ANIRIDIA

Pathogenesis

Aniridia can occur in isolation without systemic involvement, due to PAX6 gene mutation, or as part of the Wilms tumor-aniridia-genitourinary anomalies-retardation (WAGR) syndrome, which is caused by deletion of 11p13, including PAX6 and adjacent WT1 locus. Two-thirds of cases are familial (autosomal dominant), and one-third are known to be sporadic. Sporadic cases are due to “de novo” mutations that subsequently are inherited in an autosomal dominant manner with variable expressivity. One-third of the sporadic cases are associated with WAGR syndrome.

Clinical Findings

Aniridia involves all ocular tissue and can manifest as iris hypoplasia, keratopathy, glaucoma, cataract, optic nerve hypoplasia, and foveal hypoplasia. If foveal hypoplasia is present, nystagmus is usually apparent by 6 weeks of age due to poor vision. Slit-lamp or penlight examinations reveal little to no visible iris (see Figure 16–21). Photophobia may be present. Glaucoma, cataracts, and keratopathy usually develop with time in teenage years or adulthood.

Differential Diagnosis

Microphthalmia, iris coloboma, and previous iris trauma.

Complications

Low vision, cataracts, glaucoma, keratopathy.

Treatment

An ophthalmologist should evaluate and treat refractive error as well as monitor for signs of cataracts and glaucoma. Surgical treatment of cataracts and glaucoma is often indicated. Abdominal ultrasonography is indicated in the sporadic form of aniridia to diagnose Wilms tumor. Referral to genetics is recommended unless there is clear family history of autosomal dominant aniridia.

Prognosis

Patients tend to have low vision.

ALBINISM

Pathogenesis

OCA is most often due to a defect in tyrosine conversion affecting pigment production. There are at least four types of OCA for which the clinical spectrum can vary from complete lack of pigmentation in OCA1A to milder forms where pigments can accumulate over time. OA, which represent 10% of all albinism, is due to a mutation in the GPR143 gene whose protein product controls the number and size of melanosomes.

Clinical Findings

Iris, skin, and hair color vary with the type of albinism. Iris transillumination is abnormal transmission of light through an iris with decreased pigment. The iris can appear to be pink in color as the red fundus shows through the hypopigmented iris. This may be obvious or may require slit-lamp examination with retroillumination to detect focal areas of transillumination. Affected individuals usually have poor vision and nystagmus due to foveal hypoplasia. Other ocular abnormalities include abnormal optic pathway projections, strabismus, and poor stereoacuity.

Differential Diagnosis

Albinism may be associated with other systemic manifestations. Bleeding problems occur in individuals with Hermansky-Pudlak syndrome (chromosome 10q23 or 5q13), in which OCA is associated with a platelet abnormality. Chédiak-Higashi syndrome (chromosome 1q42–44) is characterized by neutrophil defects, recurrent infections, and OCA. Other conditions associated with albinism are Waardenburg, Prader-Willi, and Angelman syndromes.

Complications

Low vision, strabismus, high refractive errors, and visual field abnormalities.

Treatment

Children with albinism should be evaluated by a pediatric ophthalmologist in order to optimize their visual function. Low-vision aids can be beneficial. Vision teachers in schools and ophthalmic specialists trained in treating low-vision patients can improve the patient’s ability to perform activities of daily living and function within society. Affected individuals should use sunscreen and protective clothing to prevent skin cancer.

Prognosis

Vision is subnormal in most individuals.

MISCELLANEOUS IRIS CONDITIONS

Heterochromia, or a difference in iris color, can occur in congenital Horner syndrome, after iritis, or with tumors and nevi of the iris and use of topical prostaglandins. Malignant melanoma of the iris may also cause iris heterochromia. Acquired iris nodules (Lisch nodules), which occur in type 1 neurofibromatosis, usually become apparent by age 8 years. When seen on slit-lamp examination, Lisch nodules are 1–2 mm in diameter. They are often beige in color, although their appearance can vary. Iris xanthogranuloma occurring with juvenile xanthogranuloma can cause hyphema and glaucoma. Patients with juvenile xanthogranuloma should be evaluated by an ophthalmologist for ocular involvement.

Clinical Findings

The classical triad of symptoms in primary congenital glaucoma (PCG) is epiphora, photophobia, and blepharospasm. Primary signs of PCG are buphthalmos and corneal clouding. Buphthalmos occurs from elevated eye pressure that lends to enlargement of the globe due to low scleral rigidity of an infant eye. Horizontal breaks in descemet’s membrane called Haab’s striae can be visible in the cornea. Unlike in adults, optic nerve cupping may be reversible in children with lowering of eye pressure. In general, a red, inflamed eye is not typical of PCG.

Sudden eye pain, redness, corneal clouding, and vision loss suggest possible pupillary block or angle-closure glaucoma. Urgent referral to an ophthalmologist is indicated. Genetic evaluation should be completed if other systemic abnormalities are noted.

Glaucoma also occurs with ocular and systemic syndromes such as aniridia, anterior segment dysgenesis, Sturge-Weber syndrome, the oculocerebrorenal syndrome of Lowe, Weill-Marchesani syndrome, and the Pierre Robin syndrome. Glaucoma can also occur with a trauma, uveitis, lens dislocation, intraocular tumor, and retinal disorders.

Differential Diagnosis

Buphthalmos is glaucoma until proven otherwise. Nasolacrimal duct obstruction can cause tearing, but other signs of blepharospasm and photophobia are absent.

Treatment

Treatment depends on the cause, but surgery is often indicated. Topical medications have limited success in pediatric glaucoma but can be used as temporizing measures until the time of surgery. Treatment of refractive error and amblyopia is essential.

Prognosis

In general, the prognosis is guarded although excellent results can be seen. Patients may require multiple surgeries to achieve adequate eye pressure control.

Inflammation of the uveal tract can be subdivided according to the uveal tissue primarily involved (iris, choroid, or retina) or by location (anterior, intermediate, or posterior uveitis). Perhaps the most commonly diagnosed form of uveitis in childhood is traumatic iridocyclitis or iritis.

ANTERIOR UVEITIS/IRIDOCYCLITIS/IRITIS

Pathogenesis

Approximately 10%–20% of children with JIA are at risk for uveitis. Those with positive antinuclear antibodies, are young at arthritis diagnosis (6 years old or younger), have oligoarticular or polyarticular rheumatoid factor negative JIA, and early in their disease course (4 years) are considered high risk. Uveitis is also a common extra-articular manifestation of ankylosing spondylitis (10%–15%). It is less common in association with inflammatory bowel disease (IBD) or psoriatic arthritis (2%–7%). Other causes of anterior uveitis in children include trauma and infection. A substantial percentage of cases are of unknown origin.

Clinical Findings

Injection, photophobia, pain, and blurred vision usually accompany iritis (anterior uveitis or iridocyclitis). An exception to this is iritis associated with JIA (see Chapter 29). The eye in such cases is quiet and asymptomatic, but slit-lamp examination reveals anterior chamber inflammation with inflammatory cells and protein flare. JIA-associated uveitis is often bilateral but can be asymmetric. HLA-B27 associated uveitis is usually unilateral and recurrent. Uveitis associated with IBDs tends to be bilateral and also have vitritis. Children with JIA should be screened according to a schedule recommended by the AAP (http://www.aap.org).

Other findings include band keratopathy (calcium deposits on the cornea as a result of chronic inflammation), keratic precipitates (seen on the endothelium of cornea), posterior synechiare (iris adhesions to the lens often causing irregular shaped pupil), and iris nodules. Severe anterior uveitis can also result in vitritis and panuveitis.

Posterior subcapsular cataracts can develop in patients with or without ocular inflammation. Many of these patients have been taking corticosteroids as part of the long-term treatment of their autoimmune disease, which can cause cataracts.

Differential Diagnosis

Trauma, infection, autoimmune disorders, medications, and masquerade syndromes such as RB and juvenile xanthogranuloma. Tubulointerstitial nephritis and uveitis (TINU) is a rare cause of bilateral anterior uveitis seen in the pediatric population. Early-onset sarcoidosis and Blau syndrome are also rare causes of uveitis in children.

Complications

Cataract and glaucoma can develop due to severe inflammation but also as a result of corticosteroid treatment. Other complications include band keratopathy, cyclitic membranes, and permanent decreased vision.

Treatment

Topical or periocular corticosteroids are used to control the inflammation. Cycloplegic agents help release and prevent iris adhesion to the lens and also reduce ciliary muscle spasm that causes photophobia and eye pain. Depending on the etiology, systemic immunosuppressive agents may be needed. Methotrexate is the most commonly used systemic therapy for children. Other options include anti-TNFα agents and T-cell inhibitors for refractory cases.

Prognosis

Prognosis depends on the severity of ocular inflammation, development of cataracts, and secondary glaucoma.

POSTERIOR UVEITIS

Clinical Findings

Children with posterior uveitis may have both acute inflammation and chronic chorioretinal changes. Fundus examination by an ophthalmologist and serologic testing are used to identify or rule out the causes of posterior uveitis.

A granular “salt and pepper” retinopathy can be seen in congenital chorioretinitis due to TORCH complex (toxoplasmosis, rubella, CMV, HSV, syphilis). With congenital infections, they often have systemic manifestations including deafness, skin and bony lesions, CNS disease with developmental delay, and cardiac abnormalities.

Ocular toxoplasmosis (see Chapter 43) is the most common cause of pediatric posterior uveitis. Active toxoplasmosis produces a white lesion appearing as a “headlight in the fog” owing to the overlying vitritis. Inactive lesions have a hyperpigmented border. Classically, reactivation of the infection is characterized by new white lesions (satellite lesions) adjacent to an old atrophic scar with hyperpigmentation.

Although rare, acute retinal necrosis is a serious vaso-occlusive necrotizing retinitis that can be caused by HSV-1 and 2, VZV, and rarely by CMV. It is seen in immunocompetent patients and characterized by circumferentially advancing peripheral white necrotic lesions, vitritis, and vasculitis. Necrosis leads to retinal atrophy that can result in rhegmatogenous and tractional retinal detachment in up to 75% of cases. Patients may present with vision loss or a red and painful eye.

CMV infection is the most common cause of retinitis in immune-compromised children, especially those with hematopoietic stem cell transplantation or human immunodeficiency virus (HIV) infection. CMV retinitis appears as a white retinal lesion, typically but not always associated with hemorrhage, or as a granular, indolent-appearing lesion with hemorrhage and a white periphery.

Ocular candidiasis/endogenous endophthalmitis typically occurs in an immune compromised host or a low-birth-weight premature infant in the intensive care nursery receiving hyperalimentation. Candidal chorioretinitis appears as multifocal, whitish yellow, fluffy retinal lesions that may spread into the vitreous and produce a so-called cotton or fungus ball vitritis.

In toddlers and young children, Toxocara canis or Toxocara cati infections (ocular larva migrans; see Chapter 43) occur from ingesting soil contaminated with parasite eggs. The disease is usually unilateral. Presenting features include unilateral blurriness, strabismus, leukocoria, and photophobia. The anterior segment is usually white and quiet. Posterior segment may show localized granuloma which are seen as a white, hazy mass that may be peripheral or in the posterior pole. Peripheral lesions may have inflammatory vitreous membranes that extend from the granuloma to the optic nerve, forming characteristic retinal folds and traction. Vitritis and nematode endophthalmitis can be present. Diagnosis is based on the appearance of the lesion and serologic testing using ELISA for T canis and T cati (see Chapter 43).

Differential Diagnosis

Posterior uveitis due to autoimmune disorder, trauma, infection, malignancy, or idiopathic etiology.

Complications

Permanent vision loss due to retinal scarring and detachment.

Treatment

Treatment of acute retinal necrosis includes antiviral medication, corticosteroids, and prophylactic laser. The goal is rapid recovery of disease and prevention of fellow eye involvement as well as complication. Congenital toxoplasmosis infections must be treated with systemic antimicrobials (see Chapter 43). Ophthalmic and neurologic outcomes are improved with prolonged treatment. Treatment of toxocariasis includes periocular corticosteroid injections and vitrectomy. The benefit of antihelminthic medications, such as albendazole, thiabendazole, and mebendazole, is not well established, as they can worsen the inflammatory response as the larvae die.

Prognosis

The prognosis for vision depends on the severity of retinal and systemic involvement.

INTERMEDIATE UVEITIS

Clinical Findings

The term “intermediate uveitis” describes inflammation of the anterior vitreous, ciliary body, and peripheral retina which may or may not be associated with infection or systemic disease. The term “pars planitis” is a particular subset (85%–95%) of intermediate uveitis associated with characteristic snowbank and snowball formation in the absence of an infectious or systemic disease. Intermediate uveitis accounts for 5%–27% of pediatric uveitis.

Pars planitis has a bimodal age distribution and affects both children (5–15 years) and adults (20–40 years). It is most commonly bilateral and can be asymmetric. Patients can follow three clinical courses: 10% self-limiting, benign course; 31% smoldering course with few episodes of exacerbation; or prolonged course without exacerbations. Pars planitis may “burn out” after 5–15 years.

Most common clinical symptoms are blurry vision and floaters. Less commonly, patients can have red eye, photophobia, or pain. Some are asymptomatic and are diagnosed incidentally on routine eye examination. A dilated examination is crucial in identifying vitritis and inflammation along the pars plana (snowballs and snowbanking).

Differential Diagnosis

Intermediate uveitis is most often idiopathic. It is important to rule out infectious causes. Noninfectious etiologies such as JIA, sarcoidosis, Blau syndrome, and neoplasms should be considered. Intermediated uveitis can be associated with multiple sclerosis.

Complications

Although it is most often a benign entity, it can potentially be a blinding disease due to complications including macula edema, optic nerve edema, cataract and vitreous opacities or hemorrhage. The most common cause of decreased vision is from macular edema.

Treatment

Treatment is periocular steroid injections, systemic steroids, and systemic immunosuppression. Vitrectomy by a retinal surgeon may be needed in refractory cases.

Prognosis

Prognosis depends on the severity of the disease and secondary complications. Younger children often have worse prognosis due to delayed detection and development of amblyopia.

CLOUDY CORNEA

Clinical Findings

The cornea may have a white, hazy appearance on penlight examination. Findings can be unilateral or bilateral. The red reflex may be decreased or absent.

Differential Diagnosis

Corneal clouding, tearing, blepharospasm, and photophobia in a newborn are signs of congenital glaucoma until proven otherwise. Peter anomaly and sclerocornea are congenital malformations of the anterior segment of the eye that can be unilateral or bilateral. Direct trauma to the cornea during a forceps delivery can result in corneal haze, scarring, and significant amblyopia. Systemic abnormalities, such as developmental delay and liver or kidney failure, associated with cloudy cornea, suggest metabolic disorders such as mucopolysaccharidoses, Wilson disease, and cystinosis. Corneal infiltrates occur with viral infections, staphylococcal lid disease, and corneal dystrophies. Interstitial keratitis is a manifestation of congenital syphilis.

A complete ocular evaluation by an ophthalmologist is required and should be completed urgently when congenital glaucoma is suspected.

Complications

Vision loss is likely due to deprivation amblyopia.

Treatment

Treatment depends on the underlying condition. Surgical treatment of glaucoma and possible corneal transplantation or keratoprosthesis may be required.

Prognosis

Prognosis depends on the amount of corneal involvement and response to surgical treatment. Corneal transplants have a very high frequency of rejection and subsequently a poor prognosis in children.

VIRAL KERATITIS

Clinical Findings

In the anterior segment, HSV can present as blepharoconjunctivitis, keratitis (epithelial, stromal or endothelial), and keratouveitis. Bilateral primary herpetic eye disease tends to occur in younger patients with atopy and in patients with an altered immune system. More commonly, patients present with recurrent unilateral painful, red eye with photophobia and decreased vision. In epithelial keratitis, fluorescein administration will reveal areas of staining when viewed with a blue light. The pattern of epithelium staining may be dendritic (branch-like) or irregular and round if a geographic ulcer is present. In stromal keratitis, there is corneal haze, scarring, and neovascularization without epithelial fluorescein staining. Stromal keratitis is more commonly seen in children than in adults. Recurrence is more common in children, especially with stromal keratitis.

Herpes zoster ophthalmicus is more commonly seen in adults but can present in children. It can affect the ocular structures anywhere from the conjunctiva to the optic nerve. In the cornea, punctate keratitis and pseudodendrites represent swollen, poorly adherent epithelial cells having a “stuck on” appearance. In contrast to HSV dendrites, these pseudodendrites lack terminal bulbs and dichotomous branching and stain poorly with fluorescein. Although VZV has been cultured out of these lesions, these lesions do not respond to topical antivirals.

Adenovirus can cause bilateral epidemic keratoconjunctivitis with corneal subepithelial infiltrates (see section Viral Conjunctivitis). Adenovirus conjunctivitis may progress to keratitis 1–2 weeks after onset. Vision may be decreased.

Differential Diagnosis

Blepharokeratoconjunctivitis, allergic conjunctivitis.

Treatment

Oral acyclovir is a well-tolerated and effective treatment for children with herpes simplex infection. Topical antiviral treatment can result in local toxicity (redness and pain from epithelial toxicity) that can be avoided with oral therapy. Topical treatment can be useful in refractory cases of acyclovir-resistant strains. Topical antiviral has no role in herpes zoster ophthalmicus, which should be treated with oral antivirals initiated within 3 days of symptom onset. Topical steroids may be required for the treatment of stromal keratitis with close monitoring by an ophthalmologist. Long-term prophylactic oral acyclovir is frequently employed in children with stromal keratitis and continued for at least 1 year after the last recurrence.

In adenovirus keratoconjunctivitis, no treatment is necessary as it is most often self-limiting. However, judicious use of topical steroids can help decrease the symptoms (see section Viral Conjunctivitis).

Prognosis

Recurrence of herpetic keratitis is common in children. Poor vision results from keratitis-induced astigmatism and scarring.

CORNEAL ULCERS

Clinical findings

Most common risks of infectious keratitis and corneal ulcer are contact lens use and pre-existing ocular conditions. Risk factors in contact lens users include extended wear, overnight use, and using tap water for cleaning. Patients present with acute pain, photophobia, redness, and decreased vision. On examination, they have a white spot on the cornea with overlying epithelial defect that stains with fluorescein (see Figure 16–22C). Other examination findings include corneal thinning, anterior chamber inflammation, and hypopyon. Common pathogens causing infectious keratitis are Staphylococcus epidermidis, Pseudomonas aeruginosa and Acanthomoeba.

Differential Diagnosis

Viral keratitis, corneal abrasion, and penetrating foreign body.

Complications

Corneal perforation and corneal scarring. Corneal transplantation may be required.

Treatment

Treatment of corneal ulcers require special expertise, and urgent referral to an ophthalmologist is necessary. It is helpful for patients to bring their contact lens and case, which can be used to culture.

Prognosis

Prognosis depends on how large the ulcer is and whether the central cornea is involved.

Lens disorders involve abnormality of clarity or position. Lens opacification (Figure 16–23) can affect vision depending on its density, size, and position. Visual potential is also influenced by age at onset and the success of amblyopia treatment.

CATARACTS

Clinical Findings

Leukocoria, poor fixation, and strabismus or nystagmus may be the presenting complaints. Absence or asymmetry of a red reflex in the newborn may be due to a cataract which requires an urgent referral to an ophthalmologist.

Bilateral congenital cataracts can be inherited in an autosomal dominant manner. If there is no family history of bilateral cataracts, laboratory investigation for infectious, genetic and metabolic causes of bilateral congenital cataracts is indicated. Such investigation would include serologic tests for toxoplasmosis, rubella, CMV, HSV, and syphilis, as well as evaluation for inborn metabolic errors, such as galactosemia or Lowe syndrome. Unilateral cataracts can be associated with other structural ocular abnormalities (persistent fetal vasculature) or secondary to tumor, uveitis, or trauma.

Differential Diagnosis

Cloudy cornea, intraocular tumor, and retinal detachment.

Complications

Pediatric cataracts are frequently associated with severe deprivation amblyopia.

Treatment

Early diagnosis and treatment are necessary to prevent deprivation amblyopia in children younger than 9 years. Cataracts that are visually significant require removal. Visually significant cataracts in infants are usually removed prior to 6 weeks of age to prevent deprivation amblyopia. Rehabilitation of the vision will require the correction of refractive errors and amblyopia treatment. Contact lenses, glasses, and artificial intraocular lenses are used to correct refractive errors after cataract extraction. Concomitant treatment of associated amblyopia, glaucoma, and the underlying systemic disease as indicated.

Prognosis

The ultimate visual acuity depends on the age when the cataract developed and was removed, whether it was unilateral or bilateral, whether it was associated with glaucoma, and compliance with amblyopia treatment.

DISLOCATED LENSES/ECTOPIA LENTIS

Pathogenesis

Marfan syndrome, homocystinuria, Weill-Marchesani syndrome, sulfite oxidase deficiency, hyperlysinemia, syphilis, Ehlers-Danlos syndrome, and trauma.

Clinical Findings

Slit-lamp examination reveals malposition of the intraocular lens. Refraction often reveals significant astigmatism. A complete ophthalmic evaluation, as well as genetic and metabolic evaluation, may be warranted.

Differential Diagnosis

Ectopia lentis due to systemic disease versus trauma.

Complications

Ectopia lentis can cause decreased vision and amblyopia due to induced refractive errors. Another ophthalmologic concern is pupillary block glaucoma, in which a malpositioned unstable lens interferes with the normal flow of aqueous humor from the ciliary body (posterior to the pupil), where it is produced, into the trabecular meshwork (anterior to the pupillary plane).

Treatment

Surgical lensectomy may be required if the visual acuity is not improved significantly with glasses or contact lenses. Underlying metabolic and/or genetic disorders require a multidisciplinary approach.

Prognosis

Prognosis depends on the severity of the lens dislocation and need for lensectomy.

RETINAL HEMORRHAGES IN THE NEWBORN

Clinical Findings

Birth-related retinal hemorrhages can occur in approximately 25% of newborns. Retinal hemorrhages are more commonly seen after spontaneous vaginal delivery with higher rates up to 50% after vacuum or forcep-assisted deliveries. Retinal hemorrhages are less common after cesarean sections but still occur (5%). Most retinal hemorrhages from birth resolve by 2–4 weeks. Small, isolated deeper hemorrhages may persist to 6 weeks. Examination of the retina of an otherwise healthy newborn infant is not indicated.

Differential Diagnosis

See section Abusive Head Trauma & Nonaccidental Trauma.

Treatment

Observation is indicated since retinal hemorrhages of the newborn usually disappear by 6 weeks of life.

Prognosis

Excellent.

RETINOPATHY OF PREMATURITY

Pathogenesis

Premature infants with incomplete retinal vascularization are at risk for developing abnormal peripheral retinal vascularization, which may lead to retinal detachment and blindness. Recent studies suggest that insulin-like growth factor I (IGF-I) and vascular endothelial growth factor (VEGF) may play key roles in ROP development. Other associations for severe ROP are bronchopulmonary dysplasia, intraventricular hemorrhage, sepsis, apnea and bradycardia, and mutations of the Norrie disease gene. White males, infants with zone 1 disease, and infants with very low birth weight and gestational age have a higher risk of developing severe ROP that requires treatment.

Prevention

The risk of vision loss from ROP can be reduced by timely screening of premature infants by an ophthalmologist.

Clinical Findings

The Cryotherapy for Retinopathy of Prematurity (CRYOROP) study outlined a standard nomenclature to describe the progression and severity of ROP (Table 16–4). Since retinal blood vessels emanate from the optic nerve and do not fully cover the developing retina until term, the optic nerve is used as the central landmark. The most immature zone of the retina, zone 1, is the most posterior concentric imaginary circle around the optic nerve. The next peripheral area is zone 2, and peripheral to that is zone 3. Zone 1 disease by definition is more high-risk than disease in more anterior/peripheral zones. Similarly, the stages of the abnormal vessels are numbered from zero (simply incomplete vascularization) through stages I–V.

Recommendations for initiating eye examination are outlined in the joint policy statement issued by the AAP, AAO, and AAPOS and are based on the gestational age and birth weight. Initial examinations are performed 4–6 weeks after delivery depending on gestational age. The frequency of follow-up examinations depends on the findings and the risk factors for developing ROP. Most infants are evaluated every 1–2 weeks. ROP often resolves when the infant reaches 40 weeks estimated gestational age. Examinations can be discontinued when the retinas are fully vascularized. Complete retinal vascularization may be prolonged in infants with moderate to severe ROP.

Complications

Low vision and retinal detachment.

Treatment

Treatment of ROP is indicated when there is Type I ROP (zone 1 ROP with any stage and plus disease (severe vessel dilation and tortuosity), zone 1 ROP stage III without plus disease, zone 2 ROP with stage II or III and plus disease) as defined by the Early Treatment Retinopathy of Prematurity (ETROP) study. Treatment includes laser photocoagulation and in certain cases, anti-VEGF intravitreal injections. Surgical treatment for a retinal detachment involves scleral buckling or a lens-sparing vitrectomy by a vitreoretinal specialist. Intraocular injections of anti-VEGF agents such as bevacizumab and ranibizumab have been used in certain severe cases of ROP but long-term effects are still under investigation.

Prognosis

Most cases of ROP do not progress to retinal detachment and require no treatment. However, ROP remains a leading cause of blindness in children. Premature infants, especially those who had ROP, are at a higher risk of developing strabismus, amblyopia, and refractive error than the average child.

RETINOBLASTOMA

Pathogenesis

Retinoblastoma (RB) is a tumor that arises from the retina. From the retina, it can grow under the retina or into the vitreous. It can invade the choroid, sclera, and optic nerve and result in systemic and CNS dissemination. RB is heritable in approximately 25% and sporadic in ~75% of cases. The “2-hit hypothesis” states that biallelic inactivation of the RB1 gene, a tumor-suppressor gene, results in RB development. In heritable cases, a germline mutation is present, and the second “hit” occurs in somatic retinal cell development. In sporadic RB, both mutations are somatic. Penetrance of RB1 mutation is variable and dependent on concurrent modifiers such as MDM2 and MDM4 polymorphisms.

All children with bilateral RB and about 15% of patients with unilateral RB are presumed to have the heritable form of RB. Heritable RB tend to manifest at a younger age compared to sporadic forms. Trilateral RB refers to the development of intracranial midline tumor (most commonly pineal gland) that occurs in 5%–15% of patients with heritable RB and carries a poor prognosis. Children with germline RB1 mutation are at increased risk of developing subsequent neoplasms. Those who received radiation therapy are also had a higher risk. The most common cancers are osteosarcoma, soft tissue sarcoma, and melanoma.

Clinical Findings

The most common presenting sign in a child with previously undiagnosed retinoblastoma is leukocoria (see Figure 16–1). Evaluation of the pupillary red reflex is important, although a normal red reflex does not rule out retinoblastoma. Other presentations include strabismus, red eye, glaucoma, or pseudohypopyon (appearance of pus-like material in the anterior chamber).

Genetic testing is recommended for patients with retinoblastoma. Once the causative mutation is found in an affected individual, unaffected members of the family should be tested to determine their personal and reproductive risk.

Differential Diagnosis

Coats disease, cataracts, uveitis, toxocara infection, persistent fetal vasculature, and medulloepithelioma.

Complications

This disease can be fatal. Decreased vision depending on the location of tumor. Loss of vision and loss of eye.

Treatment

The goal of treatment is to preserve the eye and as much useful vision as possible. Chemotherapy is used to reduce initial tumor volume. Local treatment with laser photocoagulation, cryotherapy, plaque radiotherapy, or thermotherapy can often preserve vision and spare the patient enucleation. Ophthalmic artery and intravitreal chemotherapy can be successful in globe salvage and reducing the use of systemic chemotherapy.

Prognosis

Generally good with treatment. Patients with germline mutations need lifelong monitoring for secondary neoplasms.

RETINAL DETACHMENT

Pathogenesis

Common causes are trauma, ocular anomalies, and history of ocular surgery. The most common inherited cause of childhood retinal detachment is Stickler syndrome, a genetic connective tissue disorder. Other risk factors include high myopia, ROP, and Marfan syndrome.

Clinical Findings

Symptoms of detachment are floaters, flashing lights, and loss of visual field; however, children often cannot appreciate or verbalize their symptoms. A detachment may not be discovered until the child is referred after failing a vision screening examination, strabismus supervenes, or leukocoria is noted.

Differential Diagnosis

Intraocular tumor.

Complications

Vision loss, strabismus.

Treatment

Treatment of retinal detachment is surgical. Examination under anesthesia with prophylactic cryotherapy or laser photocoagulation is recommended for all patients with Stickler syndrome.

Prognosis

Prognosis depends on the location and duration of the detachment.

DIABETIC RETINOPATHY

Prevention

Control of diabetes is the best way to prevent ocular complications. Risk factors for developing diabetic retinopathy include longer duration of disease and poor glycemic control.

Clinical Findings

Acute onset of diabetes may be accompanied by sudden blurred vision due to shift in refractive error and/or cataract formation. Diabetic retinopathy can range in severity from mild, moderate or severe nonproliferative retinopathy to proliferative retinopathy that can lead to tractional retinal detachment. Macula edema may occur with any retinopathy. Vision-threatening diabetic retinopathy is rare in children.

The screening guidelines differ among different medical societies. The AAP recommends that children older than 9 years should be examined by an ophthalmologist within 3–5 years after the onset of type 1 diabetes. Based on research results in adults with type 2 diabetes, screening examination is recommended at initial diagnosis and annually thereafter for children with type 2 diabetes.

Complications

Vision loss due to vitreous hemorrhage, macular edema, neovascular glaucoma, cataracts, and/or retinal detachment.

Treatment

Good glycemic control is essential in decreasing the risk and severity of diabetic retinopathy. Severe proliferative diabetic retinopathy requires pan-retinal laser photocoagulation or vitreoretinal surgery (or both). Most children with diabetic retinopathy do not require treatment until adulthood. Intravitreal anti-VEGF injections are used to treat macular edema in adults, but their role in children is not well established.

Prognosis

Prognosis depends on the severity of the retinopathy and associated complications.

OPTIC NEUROPATHY

Clinical Findings

Poor optic nerve function may result in decreased central or peripheral vision, decreased color vision, strabismus, and nystagmus. Optic nerve disorders can be due to congenital malformation, malignancy, inflammation, infection, infiltration, medication toxicity, metabolic disorders, ischemia, and trauma.

The swinging flashlight test is used to assess the relative function of each optic nerve. It is performed by shining a light alternately in front of each pupil to check for an APD. Normal pupil should constrict when the light is shined directly and also when the light is shined into the fellow eye (consensual pupil constriction). An abnormal response in the affected eye is pupillary dilation when the light is directed into that eye after having been shown in the other eye with its healthy optic nerve. This results from poorer conduction along the optic nerve of the affected eye, which in turn results in less pupillary constriction of both eyes that occurs when the light is shined into the noninvolved eye. Hippus—rhythmic dilating and constricting movements of the pupil—can be confused with an APD. Patients with bilateral optic nerve dysfunction may not show an APD but have bilaterally sluggishly reactive pupils.

The optic nerve is evaluated as to size, shape, color, and vascularity. Occasionally, myelinization past the entrance of the optic nerve head occurs. It appears white, with a feathered edge (Figure 16–24). Myelinization onto the retina can be associated with myopia, anisometropia, and amblyopia. Anatomic anomalies of the optic nerve include colobomatous defects, optic nerve pits, and optic nerve hypoplasia.

Treatment

Management of the underlying condition resulting in the optic neuropathy is necessary.

Prognosis

Prognosis depends on the severity of optic neuropathy and the underlying disease.

OPTIC NERVE HYPOPLASIA

Pathogenesis

Optic nerve hypoplasia (ONH) is a complex congenital disorder of unknown cause, involving a spectrum of anatomic malformations and clinical manifestations ranging from isolated hypoplasia of 1 or both optic nerves to extensive brain malformations, hypothalamic-pituitary dysfunction, and neurocognitive disability. In the past, ONH has been considered as part of the septo-optic dysplasia or de Morsier syndrome due to the co-occurrence of hypothalamic-pituitary dysfunction and absent septum pellucidum. Absent septum pellucidum has no prognostic significance. Growth hormone abnormality is the most common endocrine dysfunction in children with ONH. Most cases of ONH are nonhereditary.

To date, the most consistently found risk factors for ONH are young maternal age and primiparity although the mechanism by which these lead to ONH development still needs to be elucidated.

Clinical Findings

Visual function with optic nerve hypoplasia ranges from functional vision to complete blindness. Vision impairment is nonprogressive. If only one eye is involved, the child usually presents with strabismus (usually esotropia). If both eyes are affected, nystagmus is usually the presenting sign. Visual signs often may not develop until children are at least 3 months of age. Systemic signs of congenital hypopituitarism may present earlier with signs including prolonged hyperbilirubinemia, transient or permanent hypoglycemia, or poor linear growth.

Ophthalmoscopy is performed to directly visualize the optic nerves and to determine the severity of the hypoplasia. In ONH, optic nerves can be smaller than average to nearly absent. Vessels are often abnormally straight or tortuous. Classic “double-ring sign” refers to the circular hypo- or hyper-pigmented ring seen around the small optic nerve. Neuroimaging of the brain and endocrine consultation should be performed in all patients with ONH.

Treatment

ONH is an incurable congenital disorder. Research in stem cell therapy have not shown benefits with unknown long-term risks. Sensory amblyopia and significant refractive errors should be treated by an ophthalmologist. Strabismus surgery may be necessary in certain patients. Endocrine abnormalities should be managed as necessary. A referral to a teacher for the visually impaired is a beneficial adjunct to children with ONH at any age to help optimize vision.

Prognosis

Severe bilateral optic nerve hypoplasia may result in blindness.

PAPILLEDEMA

Pathogenesis

In papilledema, intracranial pressure (ICP) can be elevated primarily (idiopathic intracranial hypertension/pseudotumor cerebri) or secondarily as a direct result of an identifiable condition. Secondary causes include intracranial mass, structural abnormalities (Chiari malformation, obstructive hydrocephalus), vascular causes (cerebral venous sinus thrombosis, hypertensive emergency), or medication-induced. Most common medications associated with papilledema are the tetracycline class, vitamin A derivatives, growth hormone supplementation, and corticosteroid use or withdrawal.

Idiopathic intracranial hypertension (IIH), formerly known as pseudotumor cerebri, is a poorly understood primary cause of intracranial hypertension in the presence of normal brain parenchyma and cerebrospinal constituents. In adults, IIH is most commonly seen in obese female of reproductive age. In children, IIH is often divided into prepubertal and pubertal groups where sex and weight are not prominent risk factors for prepubertal patients.

Not every patient with elevated ICP develops papilledema. The exact mechanism of papilledema development is not completely understood. It is speculated that transmission of ICP to the optic nerve sheath results in axoplasmic flow stasis leading to papilledema. There may be anatomic variations in the optic canal that provide protective effects in some individuals. In addition, optic nerves with atrophy may not swell even in the setting of severely elevated ICP.

Clinical Findings

Acute rise in ICP can result in headaches, tinnitus, nausea, vomiting, and vision changes (transient visual obscurations). Patients can develop diplopia from sixth nerve (CN VI) palsy that occurs when elevated ICP leads to a downward displacement of the brainstem that stretches CN VI as it crosses over the petrous ridge and enters Dorello’s canal. CN VI palsy associated with elevated ICP is more commonly seen in children compared to adults. Photophobia is also a unique symptom of elevated ICP seen in children. Gradual rise in ICP may not cause obvious symptoms. For IIH, clinical symptoms vary with age with symptoms being less obvious in younger patients. Optic nerve edema may be an incidental finding in a routine eye examination in young children.

Direct visualization of the optic nerve by ophthalmoscopy reveals an elevated disc with indistinct margins, dilated and tortuous vessels that may be obscured by the edema around the disc margin, and central hyperemia of the nerve head. Hemorrhages may be present in more severe cases. Optic nerve changes are often bilateral but can be asymmetrical.

When optic nerve edema is noted, it is important to search for the cause. MRI brain with and without contrast is the preferred method of neuroimaging. In certain cases, addition of MRV may be necessary. In secondary causes, abnormalities will be evident on MRI. In IIH, characteristic MRI findings are empty sella turcica, decreased pituitary gland size, optic nerve tortuosity, perioptic subarachnoid space enlargement, posterior globe flattening, and intraocular protrusion of the optic nerve head. These findings are not direct causes of elevated ICP but associated findings that may be seen in IIH patients. When a mass or structural abnormality is ruled out with neuroimaging, obtaining a lumbar puncture for opening pressure and CSF analysis may be necessary. There are some controversies in the threshold for normal opening pressure in children. In adults, opening pressure of greater than 25 cm H₂O is considered abnormally elevated. In children, the threshold may be higher at 28 cm H₂O, considering other contributors that can raise ICP such as sedation, elevated CO₂ levels, and flexed position.

Other ancillary modalities for evaluation include optic coherence tomography, which may show thickened retinal nerve fiber layer, and visual field tests, which most commonly show an enlarged blind spot.

Differential diagnosis

Pseudopapilledema is a normal variant of the optic disc in which the disc appears elevated, with indistinct margins and a normal vascular pattern. Pseudopapilledema sometimes occurs in hyperopic individuals. Optic disc drusen, acellular deposits that calcify over time, is commonly misdiagnosed as papilledema. Optic nerve edema can be caused by infections such as Lyme disease, Bartonellosis, and Syphilis.

Treatment

Treatment of papilledema depends on the its cause. Cessation of inciting agents may be adequate in medication-related papilledema. Anticoagulation and antibiotics may be needed for cerebral venous sinus thrombosis. For IIH, medications that are commonly used include acetazolamide, topiramate, and furosemide. For obese individuals with IIH, weight loss and healthy diet can be significantly helpful. When conservative treatment fails, surgery may be necessary. Surgical options are ventribuloperitoneal or lumboperitoneal shunts and optic nerve sheath fenestration.

Complications

Optic atrophy and vision loss.

Prognosis

Prognosis depends on the underlying etiology, duration, and control of the increased ICP.

OPTIC NEURITIS

Clinical Findings

Optic neuritis (ON) in children is a heterogenous disorder that may occur as an isolated event (ie, postinfectious, idiopathic) or as a component of a generalized inflammatory CNS disease or an underlying rheumatologic condition such as systemic lupus erythematosus. Inflammatory CNS diseases that can present with ON include acute disseminated encephalomyelitis (ADEM), multiple sclerosis (MS), and neuromyelitis optica (NMO).

Cardinal features of ON are decreased visual acuity, abnormal color vision (notably red color desaturation), pain with eye movements, and visual field (VF) deficits. APD will be present in unilateral cases. Symptoms may present over hours to days. Compared to adults, ON in children is more often bilateral (especially in less than 10 years of age), more often associated with papillitis (up to 69% vs 33% in adults), less often with painful eye movements, and majority have good visual recovery.

Diagnostic workup depends on the individual case but may include LP, MRI, serum autoimmune and rheumatologic studies, and complete ophthalmic examination. MRI brain/orbits with and without contrast may show thickening of the optic nerves on T1-weighted imaging, bright T2 signal along the optic nerve or chiasm, and postgadolinium enhancement.

Up to 36% of children who present with ON are eventually diagnosed with MS clinically or radiologically. Likelihood is higher in children with white matter lesions in brain MRI and CSF oligoclonal bands (present in 80% of children with MS vs 15% in monophasic ON). Normal MRI at the time of ON conveys a low likelihood of MS.

Severe bilateral ON with severe vision loss, poor response to steroids, signs of hypothalamic/brainstem symptoms, or the presence of longitudinally extensive lesions of the optic nerve and spinal cord should prompt evaluation of aquaporin-4 (AQP4) IgG (NMO IgG). Clinical manifestations with AQP4-IgG positivity is supportive of NMO.

Serum myelin oligodendrocyte glycoprotein (MOG) antibodies are associated with non-MS subgroup of CNS demyelination and frequently found in patients with ADEM with ON. ADEM is most commonly seen in younger children and manifests as encephalopathy with polyfocal neurologic deficits.

Differential Diagnosis

Papilledema, infection, neoplasm.

Complications

Decreased visual acuity, color vision, peripheral vision, and contrast sensitivity.

Treatment

No clinical trials have been performed for pediatric ON. Clinical practice follows evidence from the optic neuritis treatment trial (ONTT) where recovery after IV steroids was more rapid than after placebo or oral steroids. Although treatment may not change the medical outcome, recovery of visual symptoms can be shortened from 7 to 2 weeks, which may prevent psychosocial challenges faced by children including the need to make up school work and other sequelae from visual limitations.

Prognosis

Prognosis depends on the underlying disease process.

OPTIC ATROPHY

Clinical Findings

Most common causes of optic atrophy are tumors, warranting a timely evaluation and diagnosis. More recently, perinatal events (insults in gestation, at birth or in immediate postnatal period) are emerging as a common cause of optic atrophy. An example is optic atrophy resulting from intraventricular hemorrhage or periventricular white matter changes in premature infants. Other causes include structural intracranial abnormalities (craniosynostosis, hydrocephalus), post-papilledema or papillitis, toxins, ischemia, and inherited causes (autosomal dominant, autosomal recessive, X-linked, and mitochondrial). Neuroimaging is helpful for delineating CNS abnormalities.

Direct examination of the optic nerve by ophthalmoscopy reveals an optic nerve head with a cream or white color and possibly cupping. Vessels may appear attenuated. Patients may not complain of decreased vision, but often low vision is detected on examination. Nystagmus can be present if optic atrophy was acquired as an infant.

Complications

Vision loss, decreased peripheral vision or central scotoma, and contrast sensitivity.

Treatment

There is no treatment to reverse optic atrophy.

Prognosis

Prognosis depends on the severity of the optic nerve atrophy and associated neurologic deficits.

PERIORBITAL & ORBITAL CELLULITIS

Pathogenesis

Preseptal (periorbital) cellulitis usually arises from a local exogenous source such as an abrasion of the eyelid, from other infections (hordeolum, dacryocystitis), or from infected varicella or insect bite lesions. S aureus and S pyogenes are the most common pathogens cultured from these sources.

Orbital cellulitis almost always arises from paranasal sinus infection (most commonly ethmoid sinusitis) because the walls of three sinuses make up portions of the orbital walls, and infection can breach these walls or extend by way of a richly anastomosing venous system. The pathogenic agents are those of acute or chronic sinusitis—respiratory flora and anaerobes, In addition to the normal culprits of preseptal cellulitis. Streptococcus anginosis is an emerging cause of orbital cellulitis and often causes a more serious infection with increased frequency of intracranial or spinal abscesses that may require neurosurgical intervention.

Rhino-orbital-cerebral mucormycosis is an uncommon but devastating infection that can lead to blindness and death in children with immunosuppression and poorly-controlled diabetes.

Clinical Findings

Children with preseptal cellulitis present with erythematous and edematous eyelids, pain, and mild fever. The vision, eye movements, and eye itself are normal. Decreased vision, restricted eye movements, and an APD suggest orbital cellulitis.

Orbital cellulitis presents with orbital signs, which are proptosis, eye movement restriction, decreased vision, and APD. The eye often appears red and chemotic. CT or MRI is required to establish the extent of the infection within the orbit and sinuses.

Differential Diagnosis

Severe conjunctivitis can cause (often bilateral) eyelid swelling and redness that can mimic preseptal/orbital cellulitis. Other confusing diseases are primary or metastatic neoplasm of the orbit, orbital pseudotumor (idiopathic orbital inflammation), and orbital foreign body with secondary infection.

Complications

Preseptal cellulitis can progress to orbital cellulitis. Orbital cellulitis can result in permanent vision loss due to compressive optic neuropathy. Proptosis can cause corneal exposure, dryness, and scarring. Cavernous sinus thrombosis, intracranial extension, blindness, and death can result from severe orbital cellulitis.

Treatment

Initial therapy for preseptal and orbital cellulitis infection is with broad-spectrum systemic antibiotics, which may be later narrowed based on culture findings and clinical improvement. Treatment may require surgical drainage for subperiosteal abscess in addition to drainage of infected sinuses, which is a crucial part of the therapy. Surgery is indicated for decreased visual acuity attributable to orbital cellulitis, failure to improve clinically after 24–48 hours of IV antibiotics, or demonstration of worsened abscess on repeat CT. Patients with proptosis, eye movement restriction, elevated eye pressure, and age greater than 9 years are significantly more likely to require surgical intervention.

Prognosis

Most patients do well with timely treatment.

CRANIOFACIAL ANOMALIES

Clinical Findings

Ocular abnormalities associated with craniofacial abnormalities involving the orbits include visual impairment, proptosis, corneal exposure, hypertelorism (widely spaced orbits), strabismus, amblyopia, lid coloboma, papilledema, refractive errors, and optic atrophy.

Treatment

Orbital and ocular abnormalities associated with craniofacial anomalies often require a multispecialty approach. Management may require orbital and strabismus surgery. Ophthalmologists also treat amblyopia, refractive errors, and corneal exposure when present.

ORBITAL TUMORS

Clinical Findings

Capillary hemangiomas may be located superficially in the lid or deep in the orbit and can cause ptosis (see Figure 16–25), refractive errors, and amblyopia. Deeper lesions may cause proptosis.

Orbital dermoid cysts are benign congenital orbital choristomas that vary in size and are usually found temporally at the brow and orbital rim or supranasally. These lesions are firm, well encapsulated, and mobile. Rupture of the cyst causes a severe inflammatory reaction.

Lymphangioma occurring in the orbit is typically poorly encapsulated, increases in size with upper respiratory infection, and is susceptible to hemorrhage. Other benign tumors of the orbit are varix, plexiform neurofibroma, teratoma, and tumors arising from bone, connective tissue, and neural tissue.

Orbital rhabdomyosarcoma (see Chapter 31) grows rapidly and displaces the globe. The average age at onset is 6–7 years. The tumor is often initially mistaken for orbital swelling due to insignificant trauma or can mimic orbital cellulitis.

Tumors metastatic to the orbit also occur; neuroblastoma is most common. The patient may exhibit proptosis, orbital ecchymosis (raccoon eyes), Horner syndrome, or opsoclonus (dancing eyes). Ewing sarcoma, leukemia, Burkitt lymphoma, and Langerhans cell histiocytosis may involve the orbit.

Examination of vision, eye movements, eyelids, and orbits often reveals amblyopia, eyelid malposition, strabismus, and proptosis. Neuroimaging with CT or MRI is required to delineate the location and size of orbital tumors.

Differential Diagnosis

Orbital pseudotumor (idiopathic orbital inflammation) and orbital cellulitis.

Treatment

Most capillary hemangiomas do not require treatment. Topical and systemic β-blockers have shown success in treating capillary hemangiomas. Treatment is indicated if the lesion is large enough to cause amblyopia. Induced astigmatism or amblyopia (or both) are treated with glasses and patching, respectively. Treatment of orbital dermoids is by excision.

Rhabdomyosarcoma is treated with chemotherapy combined with surgery, radiation, or both. With expeditious diagnosis and proper treatment, the survival rate of patients with orbital rhabdomyosarcoma confined to the orbit approaches 90%.

Treatment of metastatic disease requires management by an oncologist and may require chemotherapy and radiation therapy.

Prognosis

Prognosis depends on the underlying disease.

NYSTAGMUS

Pathogenesis

Nystagmus can be grouped into infantile nystagmus, which usually appears in the first 3–6 months of life, and acquired nystagmus, which appears later in life. Infantile nystagmus can be idiopathic, associated with retinal diseases (ie, foveal hypoplasia), due to low vision (ie, optic nerve hypoplasia), or due to visual deprivation early in life (ie, cataracts). Foveal hypoplasia can be isolated or be associated with aniridia, albinism, and achromatopsia.

Nystagmus can also occur with normal ocular structures and seemingly normal CNS development. Infantile nystagmus syndrome, also known as congenital motor nystagmus, is an ocular disorder of unknown etiology that presents at birth or early infancy. Latent nystagmus occurs when one eye is occluded. This type of nystagmus occurs in patients with strabismus.

Acquired nystagmus can result from neurologic disorders, vestibular dysfunction, and drug toxicity.

Spasmus nutans, in which a rapid, shimmering, disconjugate nystagmus occurs with head bobbing and torticollis, is a benign disorder that resolves with time. Clinically, nystagmus of spasmus nutans is indistinguishable from nystagmus due to optic pathway glioma. MRI brain/orbits with and without contrast is necessary to determine if the cause of the nystagmus is due to a CNS disease. An electroretinogram may be required to rule out retinal pathology as the cause of nystagmus if neuroimaging is normal.

Clinical Findings

When characterizing nystagmus, the examiner can note the laterality (unilateral, bilateral, asymmetric), plane (horizontal, vertical, torsional), conjugacy, amplitude and frequency of nystagmus.

Nystagmus due to low vision or foveal hypoplasia may exhibit a slow “roving” nystagmus. Infantile nystagmus syndrome is characterized by horizontal, uniplanar nystagmus that increases in intensity with fixation and decreases in intensity with convergence and at a null point in gaze. Children may have an abnormal head posture in order to hold their gaze at the null point. They may have crossing (esotropia) due to nystagmus blockage syndrome since nystagmus is dampened by convergence. See-saw nystagmus is associated with a suprasellar mass (ie, craniopharyngioma).

Children with infantile nystagmus do not complain of oscillopsia (perception of oscillations in vision). Neurologic disease should be suspected in acquired nystagmus and also when nystagmus is unilateral or asymmetrical.

Differential Diagnosis

Opsoclonus (chaotic bilateral eye movements), voluntary eye movements (cannot be prolonged).

Treatment

Therapy is directed at managing the underlying ocular or CNS disease. An ophthalmologist can optimize vision by correcting significant refractive errors and strabismus. The range of vision varies depending on the cause of the nystagmus. Some patients may benefit from extraocular muscle surgery and contact lenses.

Prognosis

Most affected individuals have subnormal vision, but spasmus nutans usually improves with time.

AMBLYOPIA

Pathogenesis

Amblyopia is classified according to its cause. Strabismic amblyopia can occur in the nondominant eye of a strabismic child. Refractive amblyopia can occur in both eyes if significant refractive errors are untreated (ametropic or refractive amblyopia). Another type of refractive amblyopia can occur in the eye with the worse refractive error when imbalance is present between the eyes (anisometropic amblyopia). Deprivation amblyopia occurs when dense cataracts or complete ptosis prevents formation of a formed retinal image. Of the three types of amblyopia, the deprivation form of amblyopia results in the worst vision.

Normal binocular development leads to progressive refinement of monocular visual acuity, stereoacuity (3D vision), and fusion of images from both eyes. Individuals with amblyopia may not only have decreased visual acuity but also decreased contrast sensitivity, stereoacuity, and fixation stability, and increased vulnerability to “crowding,” difficulty identifying shapes surrounded by visual “clutter.”

Prevention

Vision screening and referral to an eye care professional if amblyopia is suspected.

Clinical Findings

Screening for amblyopia should be a component of periodic well-child examinations. The single best screening technique to discover amblyopia is obtaining visual acuity in each eye. In preverbal children unable to respond to visual acuity assessment, amblyogenic factors are sought, including strabismus, media opacities, unequal Brückner reflexes (pupillary red reflexes), and a family history suggestive of strabismus, amblyopia, or ocular disease occurring in childhood (see section Ophthalmic Examination).

Treatment

The earlier treatment is begun, the better will be the chance of improving visual acuity. Treatment is usually discontinued after age 9 years. Amblyogenic factors such as refractive errors are addressed. Because of the extreme sensitivity of the visual nervous system in infants, congenital cataracts and media opacities must be diagnosed and treated within the first few weeks of life. Visual rehabilitation and amblyopia treatment must then be started to foster visual development.

After eradicating amblyogenic factors, the mainstay of treatment is patching the sound eye, which causes the visual nervous system to process input from the amblyopic eye and in that way permits the development of useful vision. Other treatment modalities include “fogging” the sound eye with cycloplegic drops (atropine), lenses, and filters.

Prognosis

Prognosis depends on the compliance with treatment but is usually good.

STRABISMUS

Esotropia (Crossed Eyes)

Pathogenesis

Primary infantile esotropia (also known as congenital esotropia) has its onset in the first year of life. The deviation of the eyes toward the nose is large and obvious. The most frequent type of acquired esotropia is the accommodative type (Figure 16–26). Onset is usually between ages 2 and 5 years. The deviation is variable in magnitude and constancy and is often accompanied by amblyopia. Refractive accommodative esotropia is associated with a high hyperopic refraction. In another type, the deviation is worse with near than with distant vision (high AC/A accommodative esotropia). This type of esodeviation is usually associated with lower refractive errors.

Esotropia can be associated with certain syndromes. In Möbius syndrome (congenital facial diplegia), a sixth nerve palsy causing esotropia is associated with palsies of the 7th and 12th cranial nerves and limb deformities. Duane syndrome can affect the medial or lateral rectus muscles (or both). It may be an isolated defect or may be associated with a multitude of systemic defects (eg, Goldenhar syndrome). Duane syndrome is often misdiagnosed as a sixth (abducens) nerve palsy. The left eye is involved more commonly, but both eyes can be involved. Girls are affected more frequently.

After age 5 years, any esotropia of recent onset should arouse suspicion of CNS disease. Intracranial masses, hydrocephalus, demyelinating diseases, and idiopathic intracranial hypertension are causes of abducens palsy, where patients may present with esotropia and diplopia. Papilledema is often, but not invariably, present with increased ICP.

Besides the vulnerability of the abducens nerve to increased ICP, it is susceptible to infection and inflammation. Otitis media and Gradenigo syndrome (inflammatory disease of the petrous bone) can cause sixth nerve palsy. Less commonly, migraine and diabetes mellitus are considerations in children with sixth nerve palsy.