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 can also be a manifestation 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—abnormal red reflex. 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 localized or diffuse. Causes include infection, inflammation (ocular or systemic, like Kawasaki disease or Stevens-Johnson syndrome [SJS]), allergy, irritation from noxious agents (acidic or alkali exposure), and trauma. Subconjunctival hemorrhage may be traumatic, spontaneous, or associated with hematopoietic disease, vascular anomalies, or inflammatory processes.

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. Any irritation in the eye can cause tearing including infections, allergy, and dryness.

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 uveitis. Squinting of one eye in bright light is a common sign of intermittent exotropia (eye drifting). 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.

ABNORMAL RED REFLEX

Checking for an abnormal red reflex is a crucial part of every pediatric exam starting from the newborn period. Abnormal red reflex can be unilateral or bilateral. Any abnormality altering the penetration of light into the retina can result in abnormal red reflex. This includes cloudy corneas, cloudy lens (cataracts), abnormality in the retina itself, and significant refractive errors (nearsightedness, farsightedness, astigmatism). Causes of cloudy corneas include congenital glaucoma, Peter anomaly, infections, and anterior segment dysgenesis. Leukocoria (white pupil) can be caused by cataracts or retinal problems like retinoblastoma (RB), retinal detachment, Toxocara infection, and Coat disease (nonhereditary retinal vascular disorder) (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 (reduced vision caused by conditions affecting normal vision development). The refractive state can be 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 individual, objects nearby are in focus; those at a distance are blurred. There is a global rise in prevalence of myopia. Onset is typically in elementary school age and often progresses 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 has been shown to slow myopia progression by approximately 50%. Side effects include minimal pupil dilation and loss of accommodation without reduction in VA.

HYPEROPIA (FARSIGHTEDNESS)

A hyperopic child is able to see clearly both at distance and at near 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 glasses.

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. This refractive state is described as astigmatism. Large amounts of astigmatism can cause amblyopia, and it is treated with glasses or toric contact lenses. Keratoconus is a corneal disorder that results in progressive corneal thinning and irregular astigmatism and requires special attention. It is more commonly seen in children with Down syndrome, atopy, and connective tissue disorders.

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

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.

The ophthalmic examination of children older than 3 years should include all of the previously mentioned tests and VA testing with eye charts such as HOTV, 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, laterality, 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 (VA) 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.

In the sleeping newborn, the presence of lid squeezing 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 VA. This may be possible in children as young as 3 years. 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 VA. 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 VA 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).

Children with nystagmus (eye shaking) require special considerations during vision testing. They may have a compensatory head position (head turn or tilt) to achieve their null point (where shakiness is dampened). Because VA can decrease when forced to face straight ahead, these children should be tested in their compensatory head positions. In addition, children with nystagmus often also have “latent nystagmus,” which results in worsened shakiness when one eye is covered. For this reason, testing both eyes simultaneously without occlusion gives a better VA 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. Photo screening 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.

Red Reflex Test

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 difference in quality of the red reflexes between the two eyes constitutes a positive Brückner test and 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.

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 down, while the upper lid is lifted up. 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 illuminate the epithelial defects as 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 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. Anisocoria can result when the abnormal pupil is smaller (Horner syndrome) or when it is bigger (third nerve palsy, Adie tonic pupil, trauma, medication). 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. 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 (crossed eyes) is suspected (Figure 16–5). Nasal reflection of the light suggests exotropia (outward deviation). Pseudostrabismus is the appearance of crossed eyes due to wide nasal bridge and/or prominent epicanthal skin folds that cover the medial portion of the sclera. Despite the false impression of esotropia, they will have symmetric corneal light reflexes.

Another way of evaluating alignment is with the cover test. As the child attends to the target, each eye is alternately covered. A shift in an eye’s alignment as it assumes fixation onto the target is a possible indication of strabismus (Figure 16–6). 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 a normal finding in infancy. However, if this persists beyond 4 months of age, referral to ophthalmology is necessary.

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) can provide adequate mydriasis (dilation). In infants younger than 1 year, 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.

PREVENTION OF OCULAR INJURIES

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

CORNEAL ABRASION

Pathogenesis

Children often suffer corneal abrasions accidentally while playing with siblings or pets and 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. 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. Pain improves with instillation of ophthalmic anesthetic drops and can aid in examination. Fluorescein dye will stain the abrasion with bright yellow-green when illuminated with Wood lamp. Both upper and lower eyelids should be everted to evaluate for foreign bodies.

Differential Diagnosis

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

Complications

Possible vision loss from corneal infection and scarring.

Treatment

Topical anesthetic should never be given to patients as they can lead to corneal melting. 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.

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.

Clinical Findings

Foreign bodies on the surface of the globe and palpebral conjunctiva usually cause discomfort, tearing, and a red eye. 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.

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 can 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.

INTRAOCULAR FOREIGN BODIES & PERFORATING OCULAR INJURIES

Pathogenesis

Intraocular foreign bodies and penetrating injuries/corneal/scleral laceration (ruptured globes) 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 sports-related injuries.

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 after an inciting event. Diagnosis may be difficult if obvious signs of globe rupture as stated above are not present.

Computed tomographic (CT) scan is useful in evaluating ocular trauma, including bony injury and intraocular foreign bodies. Nonradiopaque materials such as glass will not be seen on imaging. Magnetic resonance imaging (MRI) must be avoided if a magnetic foreign body is suspected. B scan ultrasound should not be performed on suspected globe injury.

Differential Diagnosis

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

Complications

Traumatic cataract, retinal detachment, intraocular infection, loss of vision or 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. Emergent consultation with ophthalmologist is warranted.

Prognosis

Prognosis depends on the extent of the trauma.

BLUNT ORBITAL TRAUMA

Pathogenesis

Blunt trauma to the orbit can lead to orbital fractures. Retrobulbar hemorrhage (bleeding behind the globe within the orbit) can lead to orbital compartment syndrome, which can lead to permanent vision loss.

Prevention

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

Clinical Findings

The orbital floor is a common location for a fracture (called a blowout fracture). Patients can have double vision, pain with eye movements, and restriction of extraocular movements. White-eyed blowout fracture is a greenstick fracture with entrapment of orbital contents within the fracture. It is called “white-eyed” because 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. CT scan is helpful in diagnosing the extent of injuries. Consultation with an ophthalmologist is necessary to determine the full spectrum of the injuries.

Orbital compartment syndrome is also 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.

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 nonurgent repair to prevent enophthalmos (sunken appearance to the orbit). 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 in the first 24 hours after injury may help 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. Foreign bodies, such as glass or gravel, may be present depending on the mechanism of the injury.

Differential Diagnosis

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

Superficial lacerations away from the lid margins can be repaired by nonophthalmologists. Lacerations involving the lid margin or canaliculus (Figure 16–9) and those associated with significant tissue loss 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

Burns of the conjunctiva and cornea may be thermal, radiant, or chemical. Chemical burns with strong acidic and alkaline agents can be blinding and constitute a true ocular emergency. Examples are burns caused by splash injury with cleaning supplies, spilled drain cleaner, and bleach. 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.

Prevention

Protective eyewear when engaging in activities that pose a potential risk for exposure to hazardous chemicals, radiant energy, or when explosive conditions is 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, 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 to reduce ciliary spasm that contributes to pain. Topical steroids may also be necessary but should be guided by an ophthalmologist. Ultraviolet keratitis can be extremely painful, and patients often need opioids for pain control. Patients 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, which is bleeding within the anterior chamber from a ruptured vessel from 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 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 unless patient has been lying down for a long time, in which case it will be dispersed and have a hazy appearance. Sometimes, it can be seen as a clot over the iris. Total hyphema (100%) may appear black or red. A black total hyphema is referred to as “eight-ball hyphema.” The black color is suggestive of impaired aqueous circulation and decreased oxygen concentration. This distinction is important because an eight-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 should have their sickle cell status determined if hyphema is observed. These patients require extra vigilance in diagnosing and treating hyphema.

Differential Diagnosis

Nontraumatic causes of hyphema include juvenile xanthogran-uloma and blood dyscrasias.

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

AHT 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 with dilated retinal examination is 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 AHT 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. Children with history of AHT are at higher risk of strabismus and significant refractive error, requiring glasses correction.

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.

DISEASES OF THE EYELIDS

The eyelids can be affected by various dermatologic, infectious, or inflammatory conditions.

Blepharitis/Blepharokeratoconjunctivitis

Pathogenesis

Blepharitis is caused by inflammation of the eyelid margin, meibomian gland obstruction, and tear film imbalance. The term BKC is used when the conjunctiva and cornea are affected in addition to the lids. Meibomian glands, located in the eyelids, secrete the lipid layer of tear film. 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. Refractory cases of BKC can be caused by ocular rosacea or Demodex (mite) infestation.

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, collarettes), meibomian gland inspissation, follicular conjunctivitis, and corneal changes (punctate keratitis, corneal opacities, peripheral pannus and vascularization, ulceration, thinning, and scarring). Findings are often bilateral but can be asymmetric. Corneal scarring, if present, is usually peripheral and inferior but can be diffuse and central in severe cases. Vision loss can be from corneal scarring and also from induced astigmatism, leading to amblyopia.

Differential Diagnosis

Allergic or viral conjunctivitis. Herpes keratitis is the most frequent misdiagnosis. Contrary to BKC, HSV will be unilateral with decreased corneal sensation.

Complications

Permanent corneal and eyelid margin scarring in severe cases. Amblyopia with vision loss.

Treatment

It should be emphasized that BKC is a chronic condition with exacerbations and remissions. Treatment is targeted to opening the plugged meibomian glands to clear them of excess bacteria and oily secretions. Hot compresses of the lids with microwavable heat packs and eye masks is essential in melting the glandular debris followed by lid massage to express the glands. Lids should also be scrubbed with baby shampoo daily. When suspecting Demodex, addition of tea tree oil shampoo is helpful. Topical and oral antibiotics can be used to decrease the bacterial burden. These include erythromycin ointment, azithromycin drops, and oral azithromycin. Topical steroids may be required to treat the inflammation and requires close follow up with an ophthalmologist.

Prognosis

Generally good with early diagnosis and treatment.

Chalazion

Pathogenesis

Obstruction of the eyelid 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

Clinical presentation of acute chalazion and internal hordeolum can be difficult to distinguish, but management is the same.

Treatment

See section Blepharitis. Since chalazia are inflammatory and not infectious, antibiotics are not necessary. If incision and curettage are needed because the lesion is slow to resolve, the child will often require a general anesthetic.

Prognosis

Generally good.

Hordeolum

Pathogenesis

Hordeolum is usually caused by Staphylococcus infection occurring from stasis of eyelid glands, which normally produce antiseptic secretions. External hordeolum (stye) occurs from blockage of the sebaceous (Zeis) and sweat (Moll) glands, resulting in painful red swollen bump that develops into a pustule. Internal hordeolum is due to blockage of Meibomian glands and pustules form on the inner side of the eyelids.

Prevention

See section Blepharitis.

Clinical Findings

It presents as painful, red bump on the eyelid with localized erythema. Pustule can be seen on the eyelid margin for external hordeolum or on the palpebral conjunctiva for internal hordeolum (Figure 16–12).

Differential Diagnosis

Periorbital cellulitis, chalazion

Treatment

Hordeolum generally drain spontaneously without any treatment. Treatments used for chalazia can be helpful (warm compresses, lid massage, lid scrubs). Erythromycin ointment can provide lubrication. Oral antibiotic is rarely indicated unless infection leads to periorbital cellulitis, when systemic antibiotic is necessary. Incision and draining of a persistent lesion can be performed by ophthalmologists.

Prognosis

Generally good.

VIRAL EYELID DISEASE

Pathogenesis

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.

Prevention

Avoid contact with individuals with active HSV infection.

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 (HZO) can be severe and mistaken for preseptal cellulitis. Herpes simplex or herpes zoster can be diagnosed by polymerase chain reaction or viral culture. Molluscum contagiosum lesions are typically umbilicated papules, which may or may not be inflamed. It can cause acute or chronic follicular conjunctivitis.

Differential Diagnosis

Impetigo.

Complications

Conjunctivitis and keratitis (corneal infection).

Treatment

Herpes simplex blepharoconjunctivitis can be treated with systemic acyclovir or valacyclovir. An alternative includes topical ganciclovir 0.15%. 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.

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. It is due to an aberrant connection between the motor branches of trigeminal nerve innervating the external pterygoid muscle and the superior branches of oculomotor nerve supplying the levator palpebrae superioris.

Clinical Findings

The upper eyelid is lower than normal, which narrows the vertical dimension of the palpebral fissure. In congenital ptosis, the upper lid crease is poorly defined or absent with poor elevation of lid when looking up due to fibrotic levator muscle. This may be compensated by use of forehead muscles to lift the brow. 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

Amblyopia

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. Generally, surgery is delayed until preschool age when most of the facial growth has occurred, but it can be considered earlier in the presence of amblyopia or severe chin-up position.

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. Most cases of pediatric Horner syndrome are idiopathic or caused by 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.

Clinical Findings

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

The affected pupil is smaller in size and the difference is most pronounced in the dark as the problems lies in poor dilation due to sympathetic dysfunction. Ptosis is usually mild with a well-defined upper lid crease. The whole eye may appear smaller due the smaller palpebral fissure from upper lid ptosis and lower lid elevation (lower lid also has sympathetic innervation). A key finding of congenital Horner syndrome is iris heterochromia, with the lighter colored iris on the affected side (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 Horner syndrome is due to a preganglionic or postganglionic lesion of the sympathetic chain, but these drugs are difficult to obtain in a clinical setting. Use of apraclonidine may be more practical, but its use is limited in pediatric population as it can lead to lethargy and bradycardia. Physical examination, including palpation of the neck and abdomen for masses, should be performed. The need for an extensive evaluation for neuroblastoma (urinary catecholamine test, MRI of the brain, neck, chest, abdomen, and abdominal ultrasound) in children with isolated Horner syndrome remains controversial as many studies show that isolated Horner syndrome is an unlikely sign of “occult” neuroblastoma, and sedation and gadolinium involved in MRI are not without risk. Further evaluation of children with Horner syndrome is recommended for suspicious cases without a history of trauma, surgery, or pneumonia, in the presence of other signs or symptoms of neuroblastoma.

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

Congenital NLDO occurs from mechanical obstruction located distally at the valve of Hasner. 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 (Figure 16–15). The conjunctiva is usually white and quiet, distinguishing it from infectious conjunctivitis. The eyelid skin can become irritated from constant wetness or dabbing. Fluorescein dye disappearance test can evaluate the clearance of dye from the tear meniscus in both eyes over a 5-minute period.

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, higher prevalence of anisometropic amblyopia has been demonstrated in children with congenital NLDO.

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. Use of topical antibiotics should be reserved only for concurrent signs of conjunctivitis or dacryocystitis as there is no evidence that it affects resolution of NLDO and can also promote overgrowth of resistant flora that can cause chronic NLD infection.

The mainstay of surgical treatment is probing, which has 75%–80% success rate. In general, probing is recommended for children older than 12 months and under general anesthesia. Other surgical procedures include infraction of the inferior nasal turbinate and balloon dilation. Silicone tube intubation may be necessary if probing fails in older children or those with craniofacial abnormalities or Down syndrome. Much less often, dacryocystorhinostomy is required.

Prognosis

Generally good with surgical treatment.

CONGENITAL DACRYOCYSTOCELE

Pathogenesis

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

Clinical Findings

CDC presents in the neonatal period with the majority within the first 10 days of life. It is most often a unilateral (80%) bluish mass lesion, which may or may not be compressible, and can displace the medial canthus superiorly (Figure 16–16). Not all patients have associated epiphora/discharge. More than one-half can be associated with intranasal cysts that can cause respiratory distress and feeding difficulties. Therefore, nasal endoscopic examination should be performed in all cases of CDC. Infection (dacryocystitis) can develop in up to 85%, usually in the first 1–2 weeks of life, and can progress to orbital cellulitis and sepsis. Typically, CDCs are not associated with any syndromes or congenital anomalies.

Differential Diagnosis

Eyelid hemangioma, encephalocele, and meningoencephalocele (these are usually located above the medial canthus).

Complications

Dacryocystitis, orbital cellulitis, sepsis, respiratory distress, feeding difficulties.

Treatment

All patients with CDC should be referred to an ophthalmologist urgently due to the high risk of infection and possible need for surgical intervention. In the meantime, parents can perform massage as long as there are no signs of respiratory distress. Nasolacrimal duct probing and endoscopic marsupialization of the intranasal cyst under general anesthesia are often required. For treatment of dacryocystitis, hospital admission and use of systemic antibiotics are advised prior to probing in order to monitor respiratory status and reduce the rate of probing-induced bacteremia. Consultation with an ENT 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 that 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 marsupialization of intranasal cysts. Dacryocystitis with periorbital cellulitis is treated with probing after the acute episode. Those that occur from facial trauma often require dacryocystorhinostomy (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. In conjunctivitis, the eye becomes red as a result of dilation of blood vessels. Edema can accumulate leading to chemosis, a boggy appearance of conjunctiva. When eyelids are everted, there can be a papillary or follicular reaction of the palpebral conjunctiva. In papillary reaction, the palpebral conjunctiva has a cobblestoning appearance with large nodules with central vessel core. Follicular reaction causes dome-shaped, gel-like nodules surrounding surrounded at its base by vessels.

Trauma and intraocular inflammation can cause injection of conjunctival vessels that can be confused with conjunctivitis.

OPHTHALMIA NEONATORUM

Pathogenesis

Pathogenesis may be due to 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). N gonorrhoeae causes severe purulence with pseudomembrane formation and can rapidly lead to corneal perforation. Gram staining with cultures and PCR amplification for Chlamydia trachomatis, N gonorrhoeae, and HSV 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 corneal perforation and can cause sepsis.

Treatment

Treatment for ophthalmia neonatorum is shown in Table 16–3. 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 children include Haemophilus species, S pneumoniae, Moraxella catarrhalis, and S aureus.

Prevention

Hand-washing and contact precautions.

Clinical Findings

Presence of significant discharge helps distinguish bacterial from viral conjunctivitis. 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, and Bartonella henselae. Chlamydia serotypes A and C cause trachoma with severe follicular reaction of tarsal conjunctiva that can lead to scarring (Arlt’s line), limbal follicles (Herbert pits), and eventual cicatrization of cornea. Chlamydial D through K causes inclusion conjunctivitis, a unilateral chronic follicular form seen in sexually active adolescents.

Differential Diagnosis

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

Complications

Bacterial conjunctivitis is usually self-limited unless caused by C trachomatis, N gonorrhoeae, and N meningitidis, which may have systemic manifestations and can lead to ocular complications without treatment.

Treatment

If conjunctivitis is not associated with systemic illness, topical antibiotics such as polymyxin/trimethoprim sulfate or 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 of the palpebral conjunctiva, and preauricular adenopathy (pharyngoconjunctival fever). Epidemics of adenoviral keratoconjunctivitis occur. Less commonly, acute hemorrhagic conjunctivitis due to Coxsackievirus or enterovirus can present with extensive subconjunctival hemorrhage and injection. Other causes include measles, Zika virus, HSV, and varicella-zoster virus (VZV).

Prevention

Hand-washing and contact precautions.

Clinical Findings

Watery discharge associated with conjunctival injection of one or both eyes. Significant eyelid edema can occur. Enlarged preauricular lymph nodes can be present. A vesicular rash involving the eyelids or face suggests HSV or herpes zoster (unilateral).

Differential Diagnosis

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

Complications

Generally, viral conjunctivitis is self-limited. Cornea involvement in epidemic keratoconjunctivitis 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 10–21 days from the day of onset or as long as the eyes are red. They should stay out of school and group activities until redness and tearing resolve. 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. Allergic “shiners” or dark circles under eyes can be present. Atopic keratoconjunctivitis (AKC) can cause year-round symptoms. Vernal keratoconjunctivitis (VKC), which is similar to AKC but occurs more often in the spring and summer (75%), is associated with intense tearing, itching, and a stringy discharge. VKC is more common in males, usually in the first decade of life, and may present with giant cobblestone papillae (Figure 16–19) on the tarsal conjunctiva, Horner-Trantas dots (white accumulation of degenerated eosinophils and epithelial cells at corneal limbus), phlyctenules (nodular inflammation on conjunctiva or cornea), 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 are very effective at treating allergic conjunctivitis. Table 16–4 lists the various combinations available for treatment of allergic conjunctivitis. Corticosteroids should be used with caution because their extended use causes glaucoma or cataracts and requires close follow-up with an ophthalmologist. 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 and are important part of the treatment, especially for AKC.

Prognosis

Generally good but inadequate treatment and poor follow-up can result in corneal scarring and permanently decreased vision.

MUCOCUTANEOUS DISEASES

Pathogenesis

SJS/TEN is a spectrum of serious delayed-type hypersensitivity reaction to drugs. Recently, a separate pattern of mucocutaneous eruptions associated with Mycoplasma pneumoniae infection, called mycoplasma-induced rash and mucositis (MIRM), has been described. These mucocutaneous conditions can have ocular involvement with potential permanent and serious ocular complications.

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 fluorescein 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 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/TEN/MIRM involves controlling the intense ocular surface inflammation. Treatment of the underlying disease includes 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 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, retina, and choroid, 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. VA 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 (ONH), 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. 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 represents 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 (VF) abnormalities.

Treatment

Children with albinism should be evaluated by a pediatric ophthalmologist in order to optimize their visual function. 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. 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 and often beige in color. 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

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 be secondary to 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). 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), and early in their disease course (≤ 4 years), they are considered at highest risk and are recommended to be screened by an ophthalmologist every 3 months. 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 anterior uveitis. 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 IBD 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 synechiae (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 ocular inflammation. Many of these patients have been taking corticosteroids as part of the long-term treatment of their autoimmune disease, which can contribute to cataract formation.

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 children. 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 due to corticosteroid treatment. Other complications include band keratopathy, cyclitic membranes, optic nerve and retinal edema, 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 immunocompromised 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 granulomas that 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 anthelminthic 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 to 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 (MS).

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 topical or 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

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. Most often, children present with recurrent unilateral red eye with tearing, 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 or irregular and round if a geographic ulcer is present. In stromal keratitis, there is corneal haze, scarring, and neovascularization, usually without epithelial fluorescein staining. Stromal keratitis is more commonly seen in children than in adults due to increased inflammatory response. Recurrence is more common in children, especially with stromal keratitis. Up to 75% of children with herpes keratitis develop damage to corneal nerves leading to decreased corneal sensation and complications associated with neurotrophic cornea. Bilateral disease in adults has been associated with atopy and immune suppression, but this relationship remains unclear in children.

HZO is more commonly seen in adults but can present in children. It occurs with reactivation of VZV involving the ophthalmic branch of the trigeminal nerve and 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.

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

BKC, allergic conjunctivitis.

Treatment

Oral acyclovir is a well-tolerated and effective treatment for children with herpes simplex infection. Topical treatment can also be helpful in refractory cases of acyclovir-resistant strains of HSV. For acute HZO, oral antiviral medication can be helpful when started within 72 hours of onset of disease. Topical antivirals for HZO are controversial. Topical steroids are used 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 or those with recurrence 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. Permanent vision loss due to scarring and amblyopia is common in children with HSV keratitis, occurring in more than 50% of affected children.

CORNEAL ULCERS

Pathogenesis

Most common risk of infectious keratitis and corneal ulcer is contact lens use, especially with extended wear, overnight use, orthokeratology, and using tap water for cleaning. Common pathogens causing infectious keratitis are Pseudomonas aeruginosa, staphylococci, and Acanthamoeba. In children younger than 3 years, ocular trauma is a common cause of infectious corneal ulcers.

Clinical Findings

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 16–22). Other examination findings include corneal thinning, anterior chamber inflammation, and hypopyon. Acanthamoeba keratitis can cause unilateral or bilateral rapidly progressing ulcers with pain that seems out of proportion to exam findings.

Differential Diagnosis

Viral keratitis, corneal abrasion, and penetrating foreign body.

Complications

Corneal perforation and corneal scarring.

Treatment

Treatment of corneal ulcers requires 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 for 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 TORCH infections, 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), isolated and developmental (posterior or anterior polar cataracts) or secondary to tumor, uveitis, or trauma.

Differential Diagnosis

Cloudy cornea, intraocular tumor, and retinal detachment.

Complications

Pediatric cataracts are frequently associated with 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 unilateral cataracts in infants are removed prior to 6 weeks of age and bilateral cataracts within 8 weeks of age to reduce the risk of deprivation amblyopia. Rehabilitation of the vision will require the correction of refractive errors and amblyopia treatment. Contact lenses, glasses, bifocals, and artificial intraocular lenses are used to correct refractive errors after cataract extraction. Concomitant treatment of associated amblyopia, glaucoma, and the underlying systemic disease is indicated.

Prognosis

The ultimate VA 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 pupil).

Treatment

Surgical lensectomy may be required if the VA 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 forceps-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 (ROP)

Pathogenesis

Premature infants have incomplete retinal vascularization and 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. 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 16–5). 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 I, is the most posterior concentric imaginary circle around the optic nerve. The next peripheral area is zone II, and peripheral to that is zone III. Zone I disease by definition is higher risk than disease in more anterior/peripheral zones. Similarly, the stages of the abnormal vessels are numbered from zero (simply incomplete vascularization) through stages 1–5.

Initial examinations are performed 4 weeks after delivery or at 31 weeks for those with GA 26 weeks or less. 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 may persist beyond 40 weeks post menstrual 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 I ROP with any stage and plus disease (severe vessel dilation and tortuosity), zone I ROP stage III without plus disease, zone II 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.

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

RB is a tumor that arises from the retina due to mutation of both copies of the RB1 tumor suppressor gene (13q14). From the retina, it can grow under the retina or into the vitreous. It can directly invade the choroid and sclera into the orbit, spread via optic nerve to CNS, or metastasize hematogenously.

The two forms of RB are heritable (germline) and nonheritable. Heritable RB accounts for 45% of all cases, of which 85% are bilateral, 10% unilateral, and 5% trilateral (bilateral RB with pineal midline neuroectodermal tumor). The “two-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 in all cells, and the second “hit” occurs in somatic retinal cell development. In sporadic RB, both mutations are somatic. Children of a parent with heritable RB have a 45% chance of being affected by RB (50% risk of inheritance and 90% penetrance). However, most heritable RBs arise de novo and often are proband with the disease.

Children with germline RB1 mutation are at increased risk of developing second primary malignancies, especially osteosarcomas, soft tissue sarcomas, and melanomas. Those who received radiation therapy are at an additional higher risk.

Clinical Findings

The most common presenting sign in a child with previously undiagnosed RB is leukocoria (see Figure 16–1). Evaluation of the pupillary red reflex is important, although a normal red reflex does not rule out RB. Other presentations include strabismus, red eye, glaucoma, or pseudohypopyon (appearance of pus-like material in the anterior chamber). Children with heritable RB are usually diagnosed earlier and present with bilateral, multifocal tumors.

Genetic testing and counseling is important in the management of RB. 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 depends on the location of tumor. Loss of vision and loss of eye.

Treatment

The primary goal is to save the child’s life through early tumor detection and prevention of metastasis. Secondary goals are to preserve the eye and maximize visual potential. Management begins with staging exam under anesthesia and MRI. Treatment depends on laterality and extent of RB. Multimodal therapeutic options include chemotherapy (systemic, intra-arterial, or intravitreal) combined with focal treatment (laser, cryotherapy), radiotherapy (brachytherapy, stereotactic, external beam), or surgery.

Prognosis

Survival exceeds 95% in developed countries. 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 lasting seconds, and loss of VF; however, children often cannot appreciate or verbalize their symptoms. Self-injurious behavior is associated with high rates of retinal detachment and traumatic cataracts.

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 & Detection

Control of diabetes is the best way to prevent ocular complications. Risk factors for developing DR include longer duration of disease and poor glycemic control. 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 in adults with type 2 diabetes, screening examination is recommended at initial diagnosis and annually thereafter for children with type 2 diabetes.

Clinical Findings

Acute onset of diabetes may be accompanied by sudden blurred vision due to shift in refractive error and/or cataract formation. DR 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 DR is less common in children.

Complications

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

Treatment

Good glycemic control is essential to decrease the risk and severity of DR. Severe proliferative DR requires pan-retinal laser photocoagulation or vitreoretinal surgery (or both). Most children with DR do not require treatment until adulthood.

Prognosis

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

OPTIC NEUROPATHY

Clinical Findings

Optic nerve disorders can be due to congenital malformation, malignancy, inflammation, infection, infiltration, medication toxicity, metabolic or genetic disorders, ischemia, and trauma. Optic nerve function is evaluated by checking VA, color vision, pupillary response, and VFs.

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 afferent pupillary defect (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. 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 is congenital and nonprogressive but can be associated with myopia, anisometropia, and amblyopia. Anatomic anomalies of the optic nerve include colobomatous defects, optic nerve pits, and ONH.

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

ONH is a complex congenital disorder, involving a spectrum of anatomic malformations and clinical manifestations ranging from isolated hypoplasia of one 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 ONH 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 abnormal in caliber. Classic “double-ring sign” refers to the circular hypo- or hyperpigmented ring (scleral canal) seen around the small optic nerve.

Treatment

ONH is an incurable congenital disorder. Research in stem cell therapy has 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 ONH may result in blindness.

PAPILLEDEMA

Pathogenesis

In papilledema, ICP can be elevated primarily (idiopathic intracranial hypertension [IIH]/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.

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 children, IIH is often divided into prepubertal and pubertal groups. In the pubertal group, female gender and obesity are associated with IIH, similar to adults.

Not every patient with elevated ICP develops papilledema. 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 asymmetric.

When optic nerve edema is noted, it is important to search for the cause. MRI of the brain with and without contrast is the preferred method of neuroimaging. MRV is recommended in atypical cases to rule out venous sinus thrombosis. 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 (LP) for opening pressure and CSF analysis may be necessary. Elevated ICP in children 18 years and younger is greater than 25 cm H₂O in nonobese, nonsedated children, and greater than 28 cm H₂O for the all others.

Other ancillary modalities for evaluation include optic coherence tomography, which may show thickened retinal nerve fiber layer, and VF 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, which are acellular deposits that calcify over time, is commonly misdiagnosed as papilledema. Optic nerve edema can also be caused by infections and inflammation.

Treatment

Treatment of papilledema depends on the 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, or with concerns for optic nerve compression, surgery may be necessary. Surgical options are ventriculoperitoneal 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

Pathogenesis

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), MS, and neuromyelitis optica (NMO).

Clinical Findings

Cardinal features of ON are decreased VA, abnormal color vision (notably red color desaturation), pain with eye movements, and VF deficits. APD will be present in unilateral cases. Symptoms may present over hours to days. Anterior ON results in optic nerve edema (papillitis). Patients with posterior ON may have normal appearing nerves on examination despite signs of optic nerve dysfunction and abnormal MRI findings.

Diagnostic workup includes LP, MRI, serum autoimmune and rheumatologic studies, and complete ophthalmic examination. MRI of the 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 MRI of the brain and cerebrospinal fluid (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 are 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 VA, color vision, peripheral vision, and contrast sensitivity. ON may be the first manifestation of relapsing disease that can result in ocular and systemic disability.

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 followed by oral steroids was more rapid than after placebo or oral steroids alone. 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. Plasmapheresis or intravenous immunoglobulin therapy may be considered for refractory cases.

Prognosis

Prognosis depends on the underlying disease process. Despite the severe vision deficit at presentation, the majority have good visual recovery.

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 have low vision on exam. 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

The fascia of the eyelids joins with the fibrous orbital septum to isolate the orbit from the lids. The orbital septum helps decrease the risk of an eyelid infection extending into the orbit. Infections arising anterior to the orbital septum are termed preseptal. Orbital cellulitis denotes infection posterior to the orbital septum and may cause serious complications, such as a cavernous sinus thrombosis, cerebral abscess, meningitis, septicemia, and optic neuropathy.

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

Orbital cellulitis most commonly 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 red and swollen eyelids, pain, and mild fever. The vision, eye movements, and eye itself are normal.

Orbital cellulitis presents with orbital signs, which are proptosis, eye movement restriction, decreased vision, and may have an APD. The eye often appears red and chemotic. CT with contrast helps 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

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 VA 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.

Treatment modalities for rhabdomyosarcoma include radiation, chemotherapy, and surgery. 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. retinal dystrophy), due to low vision (ie, ONH, foveal 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. Positive family history may be present. Latent nystagmus occurs when one eye is occluded and can be seen in patients with strabismus. Acquired nystagmus can result from neurologic disorders, vestibular dysfunction, and drug toxicity.

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 (gaze where shakiness is the least). 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. Children with infantile nystagmus do not complain of oscillopsia (perception of oscillations in vision). See-saw nystagmus is associated with a suprasellar mass (ie, craniopharyngioma).

Spasmus nutans, in which a rapid, shimmering, asymmetric nystagmus occurs often 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 of brain/orbits, with and without contrast, is necessary to determine if the cause of the nystagmus is due to a CNS disease.

Neurologic disease should be suspected and neuroimaging performed in acquired nystagmus and also when nystagmus is unilateral or asymmetrical. An electroretinogram may be required to rule out retinal pathology as the cause of nystagmus if neuroimaging is normal.

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.