This 28YO female presented with 20/400 vision in both eyes, with classic findings of fundus flavimaculatus, including bilateral subretinal flecks extending from the macula to the midperiphery, variable outer retinal and RPE atrophy, and fundus autofluorescence changes. OCT scanning showed marked outer retinal atrophy, especially centrally. Her brother has similar findings.
Learning Points:
Fundus flavimaculatus 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 Stargardt’s disease, cone-rod dystrophy, and retinitis pigmentosa.
