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Measurement of Carotenoids in Perifovea using the Macular Pigment Reflectometer
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Nonleaking cystoid macular edema in Cohen syndrome
Kinley D Beck1, Robert W Wong2, James B Gibson3
1Department of Ophthalmology, University of Texas Health San Antonio, San Antonio, Texas.
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.
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