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Genetic and Rare Diseases Information Center (GARD)

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Stargardt disease


Other Names for this Disease

  • Juvenile onset macular degeneration
  • Stargardt macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Stargardt disease?

How might Stargardt disease be treated?

What is Stargardt disease?

Stargardt disease is a genetic eye disorder that causes progressive vision loss. This disorder affects the macula, an area of the retina responsible for sharp central vision (needed for detailed tasks such as reading, driving, and recognizing faces). Individuals with the condition have abnormal accumulation of a fatty yellow pigment (lipofuscin) in the cells underlying the macula, which causes central vision loss. People with Stargardt disease also have problems with night vision and some people may have problems with color vision. The signs and symptoms of Stargardt disease typically appear in late childhood to early adulthood and worsen over time. It is usually caused by mutations in the ABCA4 gene and inherited in an autosomal recessive manner, but it can also be caused by mutations in the ELOVL4 gene and inherited in an autosomal dominant manner.[1]
Last updated: 2/26/2011

How might Stargardt disease be treated?

At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA).[2] You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.[2]
Last updated: 6/4/2014

References
  1. Stargardt macular degeneration. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration. Accessed 2/25/2011.
  2. Stargardt Disease. American Macular Degeneration Foundation. 2014; https://www.macular.org/stargardt-disease. Accessed 6/4/2014.


Other Names for this Disease
  • Juvenile onset macular degeneration
  • Stargardt macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.