The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Retinitis Pigmentosa: Genes and Disease Mechanisms
Open accessAbstract
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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Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
Maguire, A. M., Simonelli, F., Pierce, E. A., Pugh, E. N., Mingozzi, F., Bennicelli, J., Banfi, S., Marshall, K. A., Testa, F., Surace, E. M., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802315 · Cited by 2,145
Effect of gene therapy on visual function in Leber’s congenital amaurosis
Bainbridge, J. W. B., Smith, A. J., Barker, S. S., Robbie, S., Henderson, R., Balaggan, K., Viswanathan, A., Holder, G. E., Stockman, A., Tyler, N., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0802268 · Cited by 1,924
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Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older
Grover, S., Fishman, G. A., Anderson, R. J., Tozatti, M. S. V., Heckenlively, J. R., Weleber, R. G., Edwards, A. O., & Brown, J. (1999) · Ophthalmology · doi:10.1016/s0161-6420(99)90342-1 · Cited by 235
RPE65: Role in the Visual Cycle, Human Retinal Disease, and Gene Therapy
Cai, X., Conley, S. M., & Naash, M. I. (2009) · Ophthalmic Genetics · doi:10.1080/13816810802626399 · Cited by 162
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Metadata
- Authors
- Parmeggiani, F., S. Sorrentino, F., Ponzin, D., Barbaro, V., Ferrari, S., & Di Iorio, E.
- Venue
- Current Genomics
- Publisher
- Bentham Science Publishers Ltd.
- Published
- 2011-06-01
- Volume
- 12
- Issue
- 4
- Pages
- 238-249
- ISSN
- 1389-2029 (ISSN-L)
- OpenAlex
- W2029584153
- Cited by
- 627
- References
- 6
- FWCI
- 5.17
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Parmeggiani, F., S. Sorrentino, F., Ponzin, D., Barbaro, V., Ferrari, S., & Di Iorio, E. (2011). Retinitis Pigmentosa: Genes and Disease Mechanisms. Current Genomics. https://doi.org/10.2174/138920211795860107
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
