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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Choroideremia


Other Names for this Disease
  • CHM
  • Progressive tapetochoroidal dystrophy
  • TCD
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Overview


Choroideremia is a genetic condition characterized by progressive vision loss that mainly affects males. Signs and symptoms of this condition include night blindness, progressive narrowing of the field of vision (tunnel vision), and a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells in the retina and choroid. The vision impairments get progressively worse and usually lead to blindness typically in late adulthood. Choroideremia is caused by mutations in the CHM gene and is inherited in an X-linked recessive pattern.[1]
Last updated: 4/22/2011

References

  1. Choroideremia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/choroideremia. Accessed 4/22/2011.
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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 Choroideremia. Click on the link to view a sample search on this topic.