Print friendly version
Other Names for this Disease
- Progressive tapetochoroidal dystrophy
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.Choroideremia is a genetic condition characterized by progressive vision loss that mainly affects males. Signs and symptoms of this condition include
Last updated: 4/22/2011
- Choroideremia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/choroideremia. Accessed 4/22/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Choroideremia. We will answer your question and update these pages with new resources and information.
- 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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.