Stargardt disease is the most common inherited macular dystrophy. It is associated with mutations in the ABCA4 gene and is mostly commonly inherited in an autosomal recessive fashion. The disease has a wide spectrum of severity that accounts for a highly varied presentation.
There are characteristic ‘pisciform’ flecks or yellowish deposits that can be in the shape of a fish tail at the level of the RPE. These deposits collect in the posterior pole, usually within the macula, but can be outside the arcades (Fig. 16.2.1). The peripapillary region is characteristically spared. Some cases show severe macular atrophy as the prominent feature.