Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.

ABSTRACT:

Purpose

We describe the clinical features in two pedigrees with dominantly inherited retinopathy segregating the previously reported frameshifting mutation, c.836dupG (p.Ile280Asn*78) in the terminal exon of the RGR gene, and compare their haplotypes to that of the previously reported pedigree.

Methods

The probands were ascertained at West Virginia University Eye Institute (WVU) and Moorfields Eye Hospital (MEH) through next generation sequencing (NGS) and whole genome sequencing (WGS) respectively. Clinical data included visual acuity (VA), visual fields, fundus autofluorescence (FAF), optical coherence tomography (OCT), and electroretinography (ERG). Haplotype analysis was performed using Sanger sequencing of the DNA from the molecularly ascertained individuals from the th

SUBMITTER: Ba-Abbad R 

PROVIDER: S-EPMC6181194 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature