Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

ABSTRACT:

Importance

Treatment trials require sound knowledge on the natural course of disease.

Objective

To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial.

Design, setting, and participants

This prospective, longitudinal, observational cohort study was conducted from January 2001 to December 2019 in a single center (Centre for Ophthalmology of the University of Tübingen, Germany) with patients recruited multinationally from 12 collaborating European tertiary referral centers. Patients with retinitis pigmentosa, sequence variants in PDE6A, and the ability to provide informed consent were inclu

SUBMITTER: Kuehlewein L 

PROVIDER: S-EPMC7563671 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature