Screening of Inherited Retinal Disease Patients in a Low-Resource Setting Using an Augmented Next-Generation Sequencing Panel.

ABSTRACT:

Background

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders affecting millions worldwide. Despite the widespread adoption of next-generation sequencing (NGS) panels, there remains a critical gap in the genetically diverse and understudied African populations.

Methods

One hundred and thirty-five South African patients affected by various IRDs underwent NGS using a custom-targeted panel sequencing over 100 known genes. The panel was supplemented by in silico screening for a MAK-Alu insertion and screening of seven functionally established deep intronic variants.

Results

Through our combined screening strategy, we obtained a probable genetic diagnosis for 56% of the cohort. We identified 83 unique variants in 29 IRD gene

SUBMITTER: Midgley N 

PROVIDER: S-EPMC11647334 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature