12-week-old infant boy presented to his pediatrician after his parents saw abnormal eye movements and cloudiness. He was born at 33 weeks GA by Caesarian section, triplet birth, at 4 lb, 8 oz. At 6 weeks his parents noticed he did not visually follow as well as his siblings, and at 10 weeks they noticed bilateral haziness of the corneas, as well as “jumping” eye movements which had become worse over the past 2 weeks. He also seemed more sensitive to bright lights than his siblings.
On examination, his head circumference is at the 50th percentile, weight 75th percentile for adjusted age, with normal appearing facial features and eyelids. The conjunctiva is white, but the corneas of both eyes appear to be hazy with “ground glass” appearance and normal in size. The pupils appear to be widely dilated or absent, and the pupillary red reflex appears dim with a central shadow. There is pendular nystagmus symmetrically, but the patient is able to briefly follow his mother’s face.
Observation of the triplet siblings demonstrates normal ocular appearance and visual fixation behavior in both. There is no family history of infantile or childhood eye or vision abnormality in the parents. There are no older siblings.
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