This asymptomatic 53YO male was referred because of a positive family history of two brothers with genetically confirmed PRPH2-associated pattern dystrophy. His father was legally blind by age 65 from an unknown cause. Vision was 20/20 OU.
Optos color RG imaging shows multiple drusen-like deposits in each posterior pole, as well as larger yellow subfoveal deposits that mimic the wings of a butterfly. On OCT, the subfoveal lesions show central hyperreflective deposits in the outer retina. These obscure the outer band details OD. The lesion is more focal in his OS, indenting the overlying retina. On fundus autofluorescence (FAF), these deposits are hyper-FAF.
Learning Points:
Pattern macular dystrophies are a genetically heterogeneous group of disorders characterized by variably shaped yellow subretinal deposits, the most common of which, in our experience, is adult-onset foveomacular vitelliform dystrophy. Causative mutations, including BEST1, PRPH2, IMPG1, and IMPG2. PRPH2 mutations account for 25% of pattern dystrophies, which are inherited as an autosomal dominant trait (Alashwal et al, AJO 2024;271:7-30).
