A two-month-old female child presents with nystagmus, neurodevelopmental disorder, agenesis of the corpus callosum and infantile spasms. There is no family history of neurologic or ophthalmic conditions. Pedigree is shown in Question 2 and fundus examination showed retinal abnormalities in both eyes. What could be happening?
Dr. Mario Zanolli, Chile
Alex V. Levin, MD, MHSc, FRCSC
Chief, Pediatric Ophthalmology and Ocular Genetics
Wills Eye Hospital