Other Names for this Disease
- Progressive tapetochoroidal dystrophy
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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.Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (
Last updated: 1/13/2016
- Choroideremia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/choroideremia. Accessed 4/22/2011.
- Choroideremia. National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/choroideremia/.
- Choroideremia Research Foundation offers an information page on Choroideremia. Please click the link to access this resource.
- The Foundation Fighting Blindness has a Web page on choroideremia. Click on the link to view this information.
- Genetics Home Reference (GHR) contains information on Choroideremia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.
- 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.