Progressive bifocal chorioretinal atrophy
Other Names for this Disease
- Chorioretinal atrophy, progressive bifocal
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macula, lesions in the area of the retina closest to the nose (the nasal retina), nystagmus (fast, uncontrollable movements of the eyes), myopia (nearsightedness), poor vision, and slow disease progression. Widespread abnormalities of rod and cone function has been described. PBCRA is caused by mutations in a gene which has mapped to a region on chromosome 6q, close to the macular dystrophy retinal 1 (MCDR1) locus. It is inherited in an autosomal dominant fashion. To date, there is no effective treatment for this condition.Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the
Last updated: 2/6/2013
- Progressive bifocal chorioretinal atrophy. Orphanet. September 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=75373. Accessed 2/6/2013.
- Godley BF, Tiffin PA, Evans K, Kelsell RE, Hunt DM, Bird AC. Clinical features of progressive bifocal chorioretinal atrophy: a retinal dystrophy linked to chromosome 6q. Ophthalmology. June 1996; http://www.ncbi.nlm.nih.gov/pubmed/8643244. Accessed 2/6/2013.
- Myron Yanoff, Jay S Duker . Ophthalmology. Mosby Elsevier ; 2009;
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- 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.
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