Sector retinitis pigmentosa: Report of ten cases and a review of the literature.

ABSTRACT:

Purpose

To describe the genotypes and phenotypes of ten patients with sector retinitis pigmentosa (RP). We also review previously reported mutations associated with sector RP and provide a discussion of possible underlying pathophysiological mechanisms.

Methods

Patients underwent detailed ophthalmologic examinations, fundus photography, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), as well as visual field and electroretinographic testing. All patients underwent genetic testing to identify the molecular etiology of their disease.

Results

A total of ten patients were studied. Among these patients, nine had mutations in RHO (c.677T>C; p.Leu226Pro (novel), c.68C>A; p.Pro23His, c.808A>C; p.Ser270Arg, c.44A>G; p.Asn15Se

SUBMITTER: Coussa RG 

PROVIDER: S-EPMC6937219 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature