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

Key Points

• Severe cystoid macular edema presented atypically in a patient with Oguchi disease, complicating diagnosis.
• Pathogenic variants in the SAG gene were identified, implicating gene mutations in congenital stationary night blindness.
• Genetic analysis confirmed compound heterozygous variants in SAG, underscoring the condition's genetic basis.
• This case emphasizes the need for awareness of atypical presentations in inherited retinal disorders.