Retinitis Pigmentosa (Non-syndromic).

Stephen H Tsang, Tarun Sharma

Journal: Advances in experimental medicine and biology 2019;1085():125-130

PMID: 30578498

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).

Address: Jonas Children's Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, USA.; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.; Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA. [email protected].

DOI: 10.1007/978-3-319-95046-4_25

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https://dx.doi.org/10.1007/978-3-319-95046-4_25

MeSH Terms: Fundus Oculi, Humans, Retinal Pigment Epithelium, Retinitis Pigmentosa