Eye Disorders Case

A 2-month-old full-term infant is noted to have a decreased red reflex bilaterally.
Eye Disorders Case

The pupils are normal, the conjunctiva is not inflamed, and something white can be seen in the center of both pupils. There is a family history of cataracts in the mom and the maternal aunt at a young age.

The most likely diagnosis is:

A. Retinoblastoma

B. Retinal detachment

C. Coats disease

D. Bilateral congenital cataracts

E. Corneal scarring

The correct answer is D

This child has leukocoria, which presents as a white pupil or absent red reflex. The differential diagnosis of leukocoria in an infant is broad and includes cataract, retinoblastoma, retinal detachment, Coats disease, and toxoplasmosis and Toxocara infections. Autosomal dominant cataracts are the most common cause of cataracts in infants, and they occur in the absence of other systemic findings. Given this child's family history, bilateral congenital cataract is the most likely diagnosis. If there is no family history of cataracts occurring at an early age in the mother or father, the patient may receive a workup for metabolic causes of cataracts, such as galactosemia or Lowe syndrome, for TORCH infections, and for chromosomal disorders, such as Down syndrome.


Question & Explanation: Cabana MD. Rudolph’s Pediatrics, 22e, Self-Assessment and Board Review; 2014.

Photo: Hay, Jr. WW, Levin MJ, Deterding RR, Abzug MJ. Current Diagnosis & Treatment: Pediatrics, 24e; 2018.

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