Stargardt macular dystrophy (also called Stargardt disease or Stargardt's) is the most common form of inherited macular dystrophy. It affects about 1 in 10,000 people. Most people affected with Stargardt macular dystrophy begin to experience vision loss in mid to late childhood. Within a few years of disease onset, vision usually progresses to 20/100 or 20/200 (legal blindness). Peripheral vision remains normal throughout life, and night vision may remain unaffected.
Stargardt's macular dystrophy is an autosomal recessive trait caused by mutations in the ABCA4 gene, and affects males and females equally. The parents of an individual with Stargardt are both carriers; each of their children has a 1 in 4 chance of being affected. A variant of Stargardt, called fundus flavimaculatus, is caused by mutations within the same gene, but has a later age onset (usually mid adulthood) and slower rate of progression. The term "fundus flavimaculatus" refers to a white dot appearance of the retina on the examination.
Very rarely, Stargardt can be dominantly inherited -- to date, all individuals with evidence of dominantly inherited Stargardt have been found to share a single mutation within the ELOVL4 gene.
Genetic testing is available to confirm the diagnosis mode of inheritance.