Abstract
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium of the retina which lead to progressive visual loss. RP can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. While usually limited to the eye, RP may also occur as part of a syndrome as in the Usher syndrome and Bardet-Biedl syndrome. Over 40 genes have been associated with RP so far, with the majority of them expressed in either the photoreceptors or the retinal pigment epithelium. The tremendous heterogeneity of the disease makes the genetics of RP complicated, thus rendering genotype-phenotype correlations not fully applicable yet. In addition to the multiplicity of mutations, in fact, different mutations in the same gene may cause different diseases. We will here review which genes are involved in the genesis of RP and how mutations can lead to retinal degeneration. In the future, a more thorough analysis of genetic and clinical data together with a better understanding of the genotype-phenotype correlation might allow to reveal important information with respect to the likelihood of disease development and choices of therapy.
Keywords: heterogeneity, Bardet-Biedl syndrome, Usher syndrome, mutations, X-linked, recessive, dominant, retina, non-syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa
Current Genomics
Title: Retinitis Pigmentosa: Genes and Disease Mechanisms
Volume: 12 Issue: 4
Author(s): Francesco Parmeggiani, Francesco S. Sorrentino, Diego Ponzin, Vanessa Barbaro, Stefano Ferrari and Enzo Di Iorio
Affiliation:
Keywords: heterogeneity, Bardet-Biedl syndrome, Usher syndrome, mutations, X-linked, recessive, dominant, retina, non-syndromic retinitis pigmentosa, Syndromic retinitis pigmentosa
Abstract: Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium of the retina which lead to progressive visual loss. RP can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. While usually limited to the eye, RP may also occur as part of a syndrome as in the Usher syndrome and Bardet-Biedl syndrome. Over 40 genes have been associated with RP so far, with the majority of them expressed in either the photoreceptors or the retinal pigment epithelium. The tremendous heterogeneity of the disease makes the genetics of RP complicated, thus rendering genotype-phenotype correlations not fully applicable yet. In addition to the multiplicity of mutations, in fact, different mutations in the same gene may cause different diseases. We will here review which genes are involved in the genesis of RP and how mutations can lead to retinal degeneration. In the future, a more thorough analysis of genetic and clinical data together with a better understanding of the genotype-phenotype correlation might allow to reveal important information with respect to the likelihood of disease development and choices of therapy.
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Cite this article as:
Parmeggiani Francesco, S. Sorrentino Francesco, Ponzin Diego, Barbaro Vanessa, Ferrari Stefano and Di Iorio Enzo, Retinitis Pigmentosa: Genes and Disease Mechanisms, Current Genomics 2011; 12 (4) . https://dx.doi.org/10.2174/138920211795860107
DOI https://dx.doi.org/10.2174/138920211795860107 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
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