Stargardt macular dystrophies
Type of disease: Rare conditions
Stargardt disease, also known as Stargardt macular degeneration, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This disorder affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). The disease is caused by a lack of proteins that help transport waste out of the cells in the retina that sense light (photoreceptor cells). Since the waste cannot be transported out of these cells, it builds up and causes damage to the macula, leading to the loss of vision. People with Stargardt disease also have problems with night vision and some people may also have problems seeing colors. The signs and symptoms of Stargardt disease typically appear between late childhood and early adulthood.
Stargardt disease is caused by changes (mutations) in either the ABCA4 gene, which is more common, or the ELOVL4 gene, which is rare. Both genes provide instructions for the body to make the waste transporting proteins. When the condition is caused by ABCA4 mutations, it is inherited in an autosomal recessive way, meaning a person needs a mutation in both of their ABCA4 copies to have the condition. When the condition is caused by ELOVL4 mutations, it is inherited in an autosomal dominant way, meaning a mutation in only one of the ELOVL4 copies a person has is enough to cause the condition.
If there are too many blood vessels or leakage of blood vessels under the macula, anti-VEFG drugs can be injected into the eye. Good nutrition and protection from ultraviolet (UV) rays have also been shown to slow the progression of the disease. If your child has been diagnosed with Stargardt disease, talk with their doctor about all current treatment options. Support groups can provide additional information and connect you with other families affected by Stargardt disease.