Homozygous Variant in ARL3 Causes Autosomal Recessive Cone Rod Dystrophy.

ABSTRACT:

Purpose

Cone rod dystrophy (CRD) is a group of inherited retinopathies characterized by the loss of cone and rod photoreceptor cells, which results in poor vision. This study aims to clinically and genetically characterize the segregating CRD phenotype in two large, consanguineous Pakistani families.

Methods

Funduscopy, optical coherence tomography (OCT), electroretinography (ERG), color vision, and visual acuity assessments were performed to evaluate the retinal structure and function of the affected individuals. Exome sequencing was performed to identify the genetic cause of CRD. Furthermore, the mutation's effect was evaluated using purified, bacterially expressed ADP-ribosylation factor-like protein 3 (ARL3) and mammalian cells.

Results

Fundus photography and OCT

SUBMITTER: Sheikh SA 

PROVIDER: S-EPMC6944245 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature