Print friendly version
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
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]
References
- Stargardt macular degeneration. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration. Accessed February 25, 2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center1 question(s) from the public on Stargardt disease have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- The American Society of Gene & Cell Therapy provides information on the treatment of genetic eye diseases.
- Genetics Home Reference (GHR) contains information on Stargardt disease. Click on the link to go to GHR and review the information.
- The National Eye Institute (NEI) was established by Congress in 1968 to protect and prolong the vision of the American people. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Stargardt disease. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Stargardt disease. Click on the link to go to OMIM and review these resources.