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
Review
. 2018:1085:125-130.
doi: 10.1007/978-3-319-95046-4_25.

Retinitis Pigmentosa (Non-syndromic)

Stephen H Tsang  1   2 , Tarun Sharma  3
Affiliations
Review

Retinitis Pigmentosa (Non-syndromic)

Stephen H Tsang et al. Adv Exp Med Biol. 2018.

Abstract

Most of the genes causing autosomal recessive retinitis pigmentosa (AR-RP) are rare and cause 1% of all cases. Some of the genes, like PDE6 (PDE6A, PDE6B, PDE6G), RP25, and RPE65, have higher prevalence, about 2-5% of all cases. Overall, autosomal recessive RP accounts for about 15-20% of all cases of RP. Clinically, it shows all the classic features of RP, such as attenuated retinal blood vessels, intraretinal pigmentation, waxy pallor of the optic disc, and hyperfluorescent rings on fundus autofluorescence (FAF) (Figs. 25.1, 25.2 and 25.3). The ring is suggestive of increased metabolic burden of the corresponding retinal pigment epithelium (RPE).

Keywords: Autosomal recessive; Retinitis pigmentosa.

PubMed Disclaimer

MeSH terms

LinkOut - more resources