Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2010 May 27;2(5):34.
doi: 10.1186/gm155.

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Carmen Ayuso  1 , Jose M Millan
Affiliations

Retinitis pigmentosa and allied conditions today: a paradigm of translational research

Carmen Ayuso et al. Genome Med. .

Abstract

Monogenic human retinal dystrophies are a group of disorders characterized by progressive loss of photoreceptor cells leading to visual handicap. Retinitis pigmentosa is a type of retinal dystrophy where degeneration of rod photoreceptors occurs at the early stages. At present, there are no available effective therapies to maintain or improve vision in patients affected with retinitis pigmentosa, but post-genomic studies are allowing the development of potential therapeutic approaches. This review summarizes current knowledge on genes that have been identified to be responsible for retinitis pigmentosa, the involvement of these genes in the different forms of the disorder, the role of the proteins encoded by these genes in retinal function, the utility of genotyping, and current efforts to develop novel therapies.

PubMed Disclaimer

References

    1. Ammann F, Klein D, Franceschetti A. Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci. 1965;2:183–196. doi: 10.1016/0022-510X(65)90079-1. - DOI - PubMed
    1. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980;32:223–235. - PMC - PubMed
    1. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982;66:405–416. doi: 10.1136/bjo.66.7.405. - DOI - PMC - PubMed
    1. Haim M. Epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmol Scand Suppl. 2002;233():1–34. doi: 10.1046/j.1395-3907.2002.00001.x. - DOI - PubMed
    1. Sen P, Bhargava A, George R, Ve Ramesh S, Hemamalini A, Prema R, Kumaramanickavel G, Vijaya L. Prevalence of retinitis pigmentosa in South Indian population aged above 40 years. Ophthalmic Epidemiol. 2008;15:279–281. doi: 10.1080/09286580802105814. - DOI - PubMed

LinkOut - more resources