Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 2019
Nonleaking cystoid macular edema in Cohen syndrome.
Abstract
An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.