Novel REEP6 gene mutation associated with autosomal recessive retinitis pigmentosa.

ABSTRACT:

Purpose

This study reports the ophthalmic and genetic findings of a Cameroonian patient with autosomal recessive retinitis pigmentosa (arRP) caused by a novel Receptor Expression Enhancing Protein 6 (REEP6) homozygous mutation.

Patient and methods

A 33-year-old man underwent comprehensive ophthalmic examinations, including visual acuity measurements, dilated fundus imaging, electroretinography (ERG), and spectral-domain optical coherence tomography (SD-OCT). Short-wavelength fundus autofluorescence (SW-AF) and near-infrared fundus autofluorescence (NIR-AF) were also evaluated. Whole exome sequencing (WES) was used to identify potential pathogenic variants.

Results

Fundus examination revealed typical RP findings with additional temporal ten micron yellow dots. SD-OCT i

SUBMITTER: Lin Y 

PROVIDER: S-EPMC7310602 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature