This 83YO female presented for a retinal examination without a new complaint. There was a known history of Stargardt disease from a pathogenic ABCA4 mutation. Vision was stable at 20/200 OD and 20/400 OS.
Optos color RG imaging shows bilateral macular atrophy with yellow subretinal flecks more peripherally. Fundus autofluorescence (FAF) shows hypo-FAF from the macular atrophy with variable hyper-FAF from the subretinal flecks. Diffuse outer retinal atrophy is seen on Triton swept-source OCT.
Learning Points:
Stargardt disease is an autosomal recessive disorder caused by a mutation in the ABCA4 gene. The ABCA4 protein is located in the photoreceptor outer segments and is involved in the recycling of 11-cis-retinal. The mutation in this gene causes lipofuscin accumulation in the RPE, which eventually leads to photoreceptor and RPE degeneration. Other ABCA4 disorders include fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.
