Retinitis Pigmentosa


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., ). Note the typical bone‐spicule pigmentation pattern (boxed). (Courtesy of S. Xiong.)



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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.

Berson EL (1994) Retinitis pigmentosa and allied diseases. In: Albert DM and Jakobiec FA (eds) Principles and Practice of Ophthalmology: Clinical Practice, pp. 1214–1237. Philadelphia, PA: WB Saunders.

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Retinal degeneration, slow (RDS); LocusID: 5961. LocusLink:

Retinal degeneration, slow (RDS); MIM number: 179605. OMIM:

Retinal Information Network

Rhodopsin (RHO); LocusID: 6010. LocusLink:

Rhodopsin (RHO); MIM number: 180380. OMIM:‐post/Omim/dispmim?180380

Retinal outer segment membrane protein 1 (ROM1); LocusID: 6094. LocusLink:

Retinal outer segment membrane protein 1 (ROM1); MIM number: 180721. OMIM:‐post/Omim/dispmim?180721

Retinal pigment epithelium‐specific protein (65kD) (RPE65); LocusID: 6121. LocusLink:

Retinal pigment epithelium‐specific protein (65kD) (RPE65); MIM number: 180869. OMIM:‐post/Omim/dispmim?180869

Retinitis pigmentosa GTPase regulator (RPGR); LocusID: 6103. LocusLink:

Retinitis pigmentosa GTPase regulator (RPGR); MIM number: 312610. OMIM:‐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.

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How to Cite close
Xi, Quansheng, Chen, Qiuyun, and Wang, Qing(Jul 2007) Retinitis Pigmentosa. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0006073.pub2]