Atypical presentation of Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.

Abstract excerpt

BACKGROUND: Oguchi disease, a rare form of congenital stationary night blindness (CSNB), is an autosomal recessive inherited retinal disorder (IRD) caused by pathogenic variants in the SAG gene, which encodes arrestin-1, a key protein in the phototransduction cascade. MATERIALS AND METHODS: We present a case of a 35-year-old male with nyctalopia, progressive central vision loss, and refractory CME. CASE...

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