Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.

ABSTRACT:

Purpose

To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod-cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults.

Design

Retrospective cohort study.

Participants

Patients with pathogenic variants in RLBP1 registered in a single French reference center specialized in inherited retinal dystrophies.

Methods

Clinical, multimodal imaging, and genetic findings were reviewed.

Main outcome measures

Age of onset; visual acuity; ellipsoid line length; nasal, temporal, and foveal retinal thickness; and pathogenic variants and related phenotypes, including Newfoundland rod-cone and Bothnia dystrophies (NFRCDs), were reappraised.

Results

Twenty-on

SUBMITTER: Bocquet B 

PROVIDER: S-EPMC9559097 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature