Retinitis pigmentosa: genetics and gene-based approaches to therapy

Author: Kannabiran, Chitra

Source: Expert Review of Ophthalmology, Volume 3, Number 4, August 2008 , pp. 417-429(13)

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Abstract:

Retinitis pigmentosa is a clinically and genetically heterogeneous group of primary retinal degenerations with autosomal, X-linked and mitochondrial modes of inheritance. A total of 40 genes have been identified to date that, when mutated, cause different forms of nonsyndromic retinitis pigmentosa. Knowledge of the underlying gene mutations in all patients, relative frequencies of mutations in each of the genes in different populations and classifications of the associated phenotypes are valuable in devising effective strategies for diagnostic or predictive testing of patients, as well as for the design of suitable therapeutic strategies. Recent advances have facilitated high throughput and rapid screening of genes for mutations and opened up promising therapeutic approaches for retinitis pigmentosa using gene-based systems aimed at gene replacement or delivery of factors that promote the survival of photoreceptors.

Keywords: gene therapy; genetics; mutation; retinal dystrophy; retinitis pigmentosa

Document Type: Research article

DOI: http://dx.doi.org/10.1586/17469899.3.4.417

Affiliations: 1: Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, Champalimaud Translational Centre, LV Prasad Eye Institute, Hyderabad 500 034, India. ; chitra_kannabiran@rediffmail.com, Email: chitra@lvpei.org

Publication date: 2008-08-01

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