Solved Unknowns
Become the first to solve our Retina Rocks unknowns, which are located at the top of the Retina Rocks collection. Solved cases will be acknowledged here!
Become the first to solve our Retina Rocks unknowns, which are located at the top of the Retina Rocks collection. Solved cases will be acknowledged here!
This 40YO female presented with 20/400 in her right eye and counting finger in her left eye due to classic findings from Stargardt’s disease, including perifoveal yellow subretinal flecks, variable outer retinal and RPE atrophy, and fundus autofluorescence changes. The bull’s-eye pattern of outer retinal and RPE atrophy is best seen on the OCT of her left eye (image 3, bottom). The outer plexiform layer (OPL, red arrow) marks the innermost portion of the intact photoreceptors more peripherally. The loss of the photoreceptors is seen as the OPL descends towards the RPE, eventually resulting in fairly complete outer retinal and RPE atrophy (yellow arrow). Stargardt’s 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 of this gene causes accumulation of lipofuscin in the RPE, which eventually leads to photoreceptor and RPE degeneration. Other ABCA4 disorders include fundus flavimaculatus and cone-rod dystrophy. [This case can be found on www.retinarocks.org in the Stargardt's disease folder, Stargardt's disease HRN-20190104].
