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Genetic and Rare Diseases Information Center (GARD)

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Progressive bifocal chorioretinal atrophy


Other Names for this Disease
  • Chorioretinal atrophy, progressive bifocal
  • CRAPB
  • PBCRA
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Overview


Progressive bifocal chorioretinal dystrophy (PBCRA) is an inherited condition of the eye characterized by a large wasted region of the 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.[1][2] Widespread abnormalities of rod and cone function has been described.[2] 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.[1] To date, there is no effective treatment for this condition.[3]

Last updated: 2/6/2013

References

  1. 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.
  2. 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.
  3. Myron Yanoff, Jay S Duker . Ophthalmology. Mosby Elsevier ; 2009;
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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 Progressive bifocal chorioretinal atrophy. Click on the link to view a sample search on this topic.