Resolution of cystoid macular edema with topical carbonic anhydrase inhibitor in a patient with retinal dystrophy associated with Cohen syndrome.

Abstract excerpt

Background: Cohen Syndrome (CS) is an autosomal recessive multisystemic disorder characterized by various ophthalmologic findings, including retinal dystrophy and associated cystoid macular edema (CME), in which there was no known effective treatment approach.Material and Methods: We describe a CS patient with a homozygous c.62 T > G, p.(Leu21*) mutation in the VPS13B gene with a topical carbonic anhydrase...

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