Stargardt disease is the most common form of macular dystrophy. The macula is the central part of the retina that is specialised for detailed vision and colour vision. It has an autosomal recessive mode of inheritance. Usually patients harbour genetic variants ABCA4. Rarely, the condition is caused by variants in the gene ELOVL4.
Most patients with Stargardt disease have slowly progressive central visual loss that begins in early teenage years. Stargardt disease may also present in adult life when the visual loss may be milder. It has been more recently recognised that Stargardt Disease may also present in later adulthood and can be misdiagnosed as age-related macular degeneration.
Diagnosis is established by clinical examination and retinal imaging, and is confirmed through genetic testing.
The treatment is supportive particularly during the years of education. A number of clinical trials for interventions are currently ongoing as well.