GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

ABSTRACT:

Purpose

To describe the natural history of Leber congenital amaurosis (LCA) associated with GUCY2D variants (GUCY2D-LCA) in a cohort of children and adults, in preparation for trials of novel therapies.

Design

Retrospective case series.

Methods

Participants: Patients with GUCY2D-LCA at a single referral center.

Procedures

Review of clinical notes, retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), electroretinography (ERG), and molecular genetic testing.

Main outcome measures

Demographic data, symptoms at presentation, visual acuity, evidence of progression, OCT and FAF findings, ERG assessment, and molecular genetics.

Results

Twenty-one subjects with GUCY2D-LCA were included, with a mean follow-up ± st

SUBMITTER: Bouzia Z 

PROVIDER: S-EPMC7013380 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature