Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

ABSTRACT:

Purpose

This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry.

Methods

Patients' data-including demographic, clinical, and genetic information-were obtained through members of the Israeli Inherited Retinal Disease Consortium (IIRDC). Genetic analysis was performed by either Sanger sequencing for founder mutations or next-generation sequencing (targeted next-generation sequencing or whole-exome sequencing).

Results

Forty-two patients (58% female) from 36 families were included, and their ages ranged from one year to 82 years. Their most common phenotypes were Stargardt disease (36%) and nonsyndromic retinitis pigmentosa (33%), while their mo

SUBMITTER: Ben Yosef T 

PROVIDER: S-EPMC10243676 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature