This 37YO female presented with vision of 20/80 OU and classic findings for Stargardt disease, captured with Optos multimodal imaging and Triton swept-source OCT, including bilateral perifoveal yellow subretinal flecks that are variably hyperautofluorescent and variable outer retinal and RPE atrophy.
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.
Mutation of this gene causes the accumulation of lipofuscin in the RPE, which eventually leads to photoreceptor and RPE degeneration. Other ABCA4 disorders include fundus flavimaculatus and cone-rod dystrophy.
