Stargardt Disease
Figure 1. Color retinography of the right eye showing central atrophy of the pigmented epithelium and the presence of flecks in the posterior pole and extending outside the upper temporal arch.
Figure 2. Compositional retinography of the right eye
Figure 3. Retinography of the left eye showing central atrophy of the pigmented epithelium and the presence of flecks in the posterior pole and extending outside the upper temporal arch.
Figure 4. Compositional retinography of the left eye
Autofluorescence of the right and left eyes respectively, with foveal hypoautofluorescence and hyperautofluorescence of the flecks located in the posterior pole.
Description
Currently, fundus flavimaculatus (FF) and Stargardt Disease (SD) are terms that can be used to name a heterogeneous group of hereditary retinal disorders caused by mutations in the same gene, ABCA4, which has an autosomal recessive inheritance pattern. Up to 6% of the population has different mutations in this gene in at least one of their two chromosomes 1, which confers the different clinical phenotypes. Most patients experience central vision loss during the first two decades of life.