Journal article

Genetic diseases of the retinal pigment epithelium


Authors listPreising, M. N.; Lorenz, B.

Publication year2009

Pages311-319

JournalOphthalmologe

Volume number106

Issue number4

ISSN0941-293X

DOI Linkhttps://doi.org/10.1007/s00347-008-1871-3

PublisherSpringer


Abstract
The retinal pigment epithelium (RPE) is a cellular monolayer between the choriocapillaris and the photoreceptors which controls the uptake of nutrients by the retina and the disposal of shed photoreceptor outer segments from the retina. The RPE is responsible for a continuous supply of rhodopsin by the retinol cycle and blocking of light by its pigmentation to minimize light-induced oxidation of retinal lipids and proteins. Proteins encoded by genes in which mutations are responsible for hereditary disorders of the retina and the RPE are involved in all these functions. In this article these genes and disorders are reviewed in the context of a functional network.



Citation Styles

Harvard Citation stylePreising, M. and Lorenz, B. (2009) Genetic diseases of the retinal pigment epithelium, Ophthalmologe, 106(4), pp. 311-319. https://doi.org/10.1007/s00347-008-1871-3

APA Citation stylePreising, M., & Lorenz, B. (2009). Genetic diseases of the retinal pigment epithelium. Ophthalmologe. 106(4), 311-319. https://doi.org/10.1007/s00347-008-1871-3



Keywords


ALBINISMCELL-ADHESIONCHOROIDEREMIACONE DYSTROPHYEarly-onset severe retinal dystrophyHUMAN EYESphagocytosisPHOTORECEPTOR OUTER SEGMENTSretinal pigment epitheliumRetinol cycleRPE65 GENEVISUAL FUNCTION

Last updated on 2025-21-05 at 18:43