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The Problem
The optic nerve is abnormal
Common Causes
Optic nerve hypoplasia
Optic nerve coloboma
Other Causes
Myelinated nerve fibers
Optic nerve hypoplasia
If bilateral, often presents with poor vision and abnormal eye movements in infancy
Unilateral hypoplasia may be associated with strabismus due to decreased vision
If pituitary dysfunction, may have poor growth, developmental delay, and abnormal stress response
Double vision
Transient visual obscuration (brief episodes of dimmed vision)
Idiopathic intracranial hypertension
Frequently associated with medication in children
Corticosteroids, retinoic acid
Also associated with obesity
Optic nerve coloboma
Abnormal pupil appearance (if iris coloboma present)
Poor vision or strabismus if fovea affected
Associated systemic diseases
CHARGE Association
May have family history
Infants and young children
Light sensitivity
Eye appears large, cornea cloudy
Older children
Usually asymptomatic
Optic disc drusen
Trisomy 21
Myelinated nerve fibers
Decreased vision due to myopia
Optic nerve hypoplasia
Infant with poor vision, nystagmus
Poor pupil responses
Visual acuity usually normal (unless severe)
Optic nerve elevated, swollen, hemorrhages, cotton wool spots
Decreased outward movement of eye due to sixth nerve palsy
Optic nerve coloboma
May have associated iris coloboma
Variable involvement of optic nerve, retina
Usually inferonasal quadrant
Infants and young children
Corneal clouding, eye larger than normal
Usually unable to visualize optic nerve
Older children
Enlarged cup:disc ratio
Trisomy 21—abnormal vascular pattern
Optic nerve drusen
Irregular lumpy appearance
White deposits within nerve
Myelinated nerve fibers
White feathery appearance beginning at optic nerve
Extend along course of retinal nerve fibers

Similar to examination for retinal hemorrhages, evaluation of the optic nerve is often difficult in pediatric patients, particularly infants and toddlers. In older children, examination of the nerve may be part of the routine well-child examination, or may be performed due to specific symptoms (such as headache). The presence of papilledema requires prompt evaluation, including neuroimaging and consultation with a neurologist. If the patient has an abnormal-appearing nerve, but no symptoms of increased intracranial pressure, referral to a pediatric ophthalmologist should be considered to evaluate for pseudopapilledema, which could obviate the need for further extensive testing. Most children with other abnormal optic nerve findings should be referred to a pediatric ophthalmologist.

What Shouldn’t Be Missed

Optic nerve hypoplasia is a frequent cause of very poor vision and nystagmus in infants. Due to the difficulty of direct ophthalmoscopic evaluation of the optic nerves in infants with nystagmus, such patients require referral to a pediatric ophthalmologist. Optic nerve hypoplasia may be associated with pituitary abnormalities, and these patients may be unable to mount a normal stress response, potentially causing severe problems during even mild illnesses. This possibility should be kept in mind until the patient is evaluated by an endocrinologist.

Papilledema may occur in patients with idiopathic intracranial hypertension. In children, this is most commonly associated with ...

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