This 44YO male presented with classic findings for fundus flavimaculatus, including perifoveal atrophy and variable hyper-autofluorescent subretinal yellow flecks extending from the macula to the midperiphery. Fluorescein angiography (FA) reveals a central dark choroid due to RPE cells becoming engorged with lipofuscin. Surprisingly, vision was 20/20 OU with a negative family history.
Learning Points:
Fundus flavimaculatus is an autosomal recessive disorder that is caused by mutations involving the ABCA4 gene.
This gene encodes one of a family of ATP-binding cassette (ABC) transmembrane proteins, which mediate the active transport of various substrates across cellular membranes. The ABCA4 protein is present in the photoreceptor outer segment disc membranes, where it participates in the recycling of 11-cis-retinal.
Stargardt’s disease is felt to be fundus flavimaculatus without peripheral findings. Vision in fundus flavimaculatus is often better than Stargardt’s due to later disease onset and less macular involvement. Both likely represent an RPE lipofuscin storage disease.
