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

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 PRESENTATION: A 35-year-old male presented with nyctalopia and progressive central vision loss. Evaluation revealed attenuated retinal vessels, peripheral pigmentary changes, and severe CME bilaterally. Despite treatment with carbonic anhydrase inhibitors and NSAIDS, CME persisted. Initial genetic testing identified a heterozygous pathogenic SAG variant (p.Arg193*), raising suspicion for autosomal dominant RP. However, advanced long-read sequencing revealed a second pathogenic intronic SAG variant (c.-29+3A>G) in trans with the initial variant, confirming a diagnosis of autosomal recessive Oguchi disease.