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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