Clinical and genetic studies for a cohort of patients with Leber congenital amaurosis.

ABSTRACT:

Purpose

Leber congenital amaurosis (LCA) is a group of early-onset retinal degenerative disorders, resulting in blindness in children. This study aimed to describe the clinical and genetic characteristics of a cohort of patients with LCA and to investigate the retinal vascular characteristics in LCA patients.

Methods

Fifty-two children with LCA were included in the study. All patients underwent detailed ocular examinations. Electroretinography (ERG) was used to evaluate the retinal function. Optical coherence tomography (OCT) was used to assess the structure change of the retina for those patients who were able to cooperate very well. Panel-based next-generation sequencing was performed to identify pathogenic variants in genes associated with LCA. Diameters of the retinal ve

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC11377616 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature