This 9YO female had a known history of Stargardt disease at the time of examination on 11/19/21. Prior genetic testing revealed two pathogenic ABCA4 mutations.
On 11/19/21, color photography, fundus autofluorescence, and OCT en face of the outer retina are fairly normal except for some faint hyper-FAF flecks outside the macula and faint hyperreflective macular lesions.
When last examined on 6/7/24, vision was 20/100 OD and 20/80 OS. Despite the relatively stable vision, there was a dramatic progression of her disease on all multimodal images.
Similar findings were noted in her left eye (not shown).
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 in this gene causes lipofuscin accumulation in the RPE, which eventually leads to photoreceptor and RPE degeneration. Other ABCA4 disorders include fundus flavimaculatus, cone-rod dystrophy, retinitis pigmentosa, and age-related macular degeneration.
