Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.

ABSTRACT:

Importance

A precise phenotypic characterization of retinal dystrophies is needed for disease modeling as a basis for future therapeutic interventions.

Objective

To compare genotype, phenotype, and structural changes in patients with rod-cone dystrophy (RCD) associated with mutations in PDE6A or PDE6B.

Design, setting, and participants

In a retrospective cohort study conducted in Paris, France, from January 2007 to September 2017, 54 patients from a cohort of 1095 index patients with RCD underwent clinical examination, including personal and familial history, best-corrected visual acuity (BCVA), color vision, slitlamp examination, full-field electroretinography, kinetic visual fields (VFs), retinophotography, optical coherence tomography, near-infrared fundus autofluo

SUBMITTER: Khateb S 

PROVIDER: S-EPMC6567841 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature