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Diseases

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
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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]
Last updated: 2/26/2011

References

  1. Stargardt macular degeneration. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration. Accessed 2/25/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.