This 33YO male presented with counting fingers bilaterally from Stargardt disease. There was a positive family history for Stargardt, and genetic testing in the past was positive for a pathogenic ABCA4 mutation.
Color photographs show a bilateral beaten-bronze appearance at the macular centers, with more subtle pigmentary changes throughout the fundi.
Fundus autofluorescence (FAF) shows hypo-FAF in the macular lesions and, more dramatically, diffuse pigmentary changes elsewhere.
OCT scanning shows marked central foveal retinal thinning, with variable more peripheral outer retinal 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.
The 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.
