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The Problem
“My child’s eye reflex looks white.”
Common Causes
Cataract
Retinoblastoma
Pseudoleukocoria
Other Causes
Retinal abnormalities
Detachment
Coat’s disease
Retinopathy of prematurity
Retinal coloboma
KEY FINDINGS
History
General
When first noticed?
Getting worse?
Does the eye wander?
Does the child appear to see?
Cataract
Family history of childhood cataracts
Other systemic/developmental problems
Retinoblastoma
Family history of retinoblastoma
Pseudoleukocoria
Only noticed in photographs when taken from the side
Retinal disorder
Premature birth
Family history of retinal disease
Examination
General
Assessment of red reflex with direct ophthalmoscope
Vision
Strabismus
Cataract
Clouding of lens
Retinoblastoma
White mass posterior to lens
Retinal detachment
Grey mass posterior to lens
Pseudoleukocoria
Red reflex appears normal when viewed from straight ahead
Abnormal when viewed from side
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Almost all patients whose parents report an abnormal red reflex should be referred to a pediatric ophthalmologist due to the potential serious implications of the possible diagnoses. Similarly, if the red reflex cannot be adequately visualized during a well-child examination, referral is indicated.

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What Shouldn’t Be Missed

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Retinoblastoma is highly curable if it is identified while confined to the eye, but is potentially lethal if it spreads. Therefore, early diagnosis is very important.

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The visual prognosis for infantile cataracts is directly related to the age at which they are detected and treated. Unilateral congenital cataracts should be removed by 6 weeks of age to maximize the potential for vision.

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  • 1. Cataracts. Cataracts in infants are most commonly identified by an abnormal red reflex (Figure 19–1). Due to the high risk of amblyopia in unilateral cataracts, prompt referral to a pediatric ophthalmologist is indicated. Bilateral cataracts may occur in association with several syndromes or diseases, and these children require evaluation for these systemic disorders (see Chapter 30).
  • 2. Retinoblastoma. Retinoblastoma is rare, but it is the most common primary intraocular tumor in children. It most frequently presents due to an abnormal red reflex (Figure 19–2A and B). It is one of the few life-threatening disorders encountered in pediatric ophthalmology. Intraocular retinoblastoma is very treatable, but the mortality for metastatic disease is high. Identification of tumors before systemic spread is critical. Most children with large unilateral tumors will require enucleation (surgical removal of the eye), but the eye and vision may sometimes be preserved if the tumors are identified when they are small.
  • 3. Pseudoleukocoria. The optic nerve head at the back of the eye is white. If a light is shined into the eye from an oblique angle temporally, the reflection from the optic nerve head may fill the pupillary opening, producing pseudoleukocoria (Figure 19–3). This usually requires evaluation by a pediatric ophthalmologist to verify.
  • 4. Retinal disorders. Retinal disorders that cause detachments are rare in children. They most commonly occur in infants with retinopathy of prematurity and may also occur following trauma or due to rare ...

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