Clinical Presentation
A 1-week-old girl was referred by her pediatrician for evaluation of bilateral decreased red reflex, thought to be due to bilateral congenital cataracts.
The child was born full-term after an uncomplicated pregnancy and delivery. The family history was significant for bilateral congenital cataracts in the mother, grandmother, and great-grandmother, as well as other maternal relatives. Only the mother's cataracts necessitated removal in infancy, with surgery being performed at approximately 8-9 months of age. There was no family history of metabolic disease.
On exam, the child demonstrated a good red reflex bilaterally with central opacity noted, but no distortion of the retinoscopic reflex. She also had pupillary miosis bilaterally. She had symmetric corneal light reflexes and normal alignment of both eyes using the Hirschberg test. There was no nystagmus. Cycloplegic refraction was +2.50 in both eyes.
Anterior segment photos were taken that showed bilateral cataracts (Figures 1 and 2).

Figure 1. Photo of right eye demonstrating a central opacity in the lens.

Figure 2. Photo of right eye demonstrating the conical appearance of the lesion.
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Cite this: A 1-Week-Old Baby With Bilateral Cataracts - Medscape - Mar 22, 2019.
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