Stargardt disease is a severe form of inherited juvenile macular degeneration and characterized by discrete yellowish round flecks around the macula at the level of the retinal pigment epithelium (RPE). The disease usually begins in late childhood with a progressive loss of central vision, although in some cases the earliest manifestations begin to appear only in to early adulthood. In its earliest stages, visual acuity may appear to be normal, with patients experiencing only dark adaptation problems. Progressively, patients begin to experience central vision loss, and in advanced cases, macular atrophy, color vision impairment, and severe loss of visual acuity classified as legal blindness. During this progression, fatty deposits, called lipofuscin, accumulate around the RPE in the macula. In the early stages, this accumulation consists of only a few yellowish flecks, and resembles a snail's slime. However, in the later stages, the macula has a bull's eye pattern, accompanied with atrophy of the RPE.
Most cases of Stargardt disease are inherited in an autosomal recessive manner. About 10% of them are transmitted by autosomal dominant inheritance. Most commonly, mutations in the ABCA4 (ATP-Binding Cassette, Subfamily A, Member 4) gene have been shown to be implicated in the pathogenesis of the disease. Other mutations in the same gene have been implicated in other ocular disorders, such as autosomal recessive cone-rod dystrophy.