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Diseases

Genetic and Rare Diseases Information Center (GARD)

Choroideremia


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

Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.[1][2]
Last updated: 1/13/2016

References

  1. Choroideremia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/choroideremia. Accessed 4/22/2011.
  2. Choroideremia. National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/choroideremia/.
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Basic Information

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a 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.
    Orphanet
    Orphanet
  • 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.
Other Names for this Disease
  • CHM
  • Progressive tapetochoroidal dystrophy
  • TCD
  • Tapetochoroidal 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.