Retinitis Pigmentosa

Quansheng Xi, Cleveland Clinic, Cleveland, Ohio, USA
Qiuyun Chen, Cleveland Clinic, Cleveland, Ohio, USA
Qing Wang, Cleveland Clinic, Cleveland, Ohio, USA

Published online: July 2007

DOI: 10.1002/9780470015902.a0006073.pub2

Retinitis pigmentosa is a heterogeneous group of retinal dystrophies that are characterized by photoreceptor cell degeneration, night blindness, a gradual loss of peripheral visual fields and eventual loss of central vision. Several genes responsible for the development of retinitis pigmentosa have now been identified and cloned, and these discoveries have defined the genetic pathways for pathogenesis of retinitis pigmentosa.

Keywords: retinitis pigmentosa; photoreceptor degeneration; genetics; phototransduction; retinal dystrophy

Figure 1. Photograph of the fundus of an individual affected with retinitis pigmentosa who carries the Glu341X mutation in the rhodopsin gene (Zhao et al., 2001). Note the typical bone-spicule pigmentation pattern (boxed). (Courtesy of S. Xiong.)
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 References
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 Further Reading
    Blackshaw S, Fraioli RE, Furukawa T and Cepko C (2001) Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes. Cell 107: 579–589.
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    Phelan JK and Bok D (2000) A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Molecular Vision 6: 116–124.
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    ePath Retinal degeneration, slow (RDS); LocusID: 5961. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5961
    ePath Retinal degeneration, slow (RDS); MIM number: 179605. OMIM: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?179605
    ePath Retinal Information Network http://www.sph.uth.tmc.edu/Retnet
    ePath Rhodopsin (RHO); LocusID: 6010. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6010
    ePath Rhodopsin (RHO); MIM number: 180380. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?180380
    ePath Retinal outer segment membrane protein 1 (ROM1); LocusID: 6094. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6094
    ePath Retinal outer segment membrane protein 1 (ROM1); MIM number: 180721. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?180721
    ePath Retinal pigment epithelium-specific protein (65kD) (RPE65); LocusID: 6121. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6121
    ePath Retinal pigment epithelium-specific protein (65kD) (RPE65); MIM number: 180869. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?180869
    ePath Retinitis pigmentosa GTPase regulator (RPGR); LocusID: 6103. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=6103
    ePath Retinitis pigmentosa GTPase regulator (RPGR); MIM number: 312610. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?312610
    van Soest S, Westerveld A, de Jong PT et al. (1999) Retinitis pigmentosa: defined from a molecular point of view. Survey of Ophthalmology 43: 321–334.

Related Sub-Topics:

Ion Channels | Neurobiology of Disease | Sensory Systems | Sensory Transduction Mechanisms | Molecular Genetics of Common and Complex Disease | Specific Genetic Disorders | Proteomic Studies of Genetic Disease
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Article Title: Retinitis Pigmentosa
 
How to Cite close
Xi, Quansheng, Chen, Qiuyun, and Wang, Qing(Jul 2007) Retinitis Pigmentosa. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0006073.pub2]