Stargardt Disease

The most common inherited macular dystrophy

Overview

Stargardt disease is an inherited degeneration of the macula, the central part of the retina used for reading and recognizing faces. It is most often caused by variants in the ABCA4 gene inherited in an autosomal recessive pattern, which lead to toxic byproducts of the visual cycle building up in the retinal pigment epithelium. Symptoms usually begin in childhood or early adulthood with gradual central vision loss, while side vision is typically preserved. Yellow white flecks in the retina are characteristic. There is no approved cure, and gene based and drug therapies are being studied in clinical trials.