Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.

ABSTRACT:

Background

Because of the low prevalence of inherited retinal diseases, reports on the distribution of retinitis pigmentosa (RP)-related genes in Korean patients are scarce. The aim of this study was to determine the mutation spectrum and allele frequency and observe the final diagnoses in a Korean cohort clinically diagnosed with RP.

Methods

We used whole-exome sequencing (WES) to analyze a Korean cohort of 100 unrelated patients clinically diagnosed with RP. The possible pathogenicity of each variant was assessed based on the guidelines of the American College of Medical Genetics and Genomics and Association for Molecular Pathology, in-silico prediction tools, known clinical phenotypes, and inheritance patterns.

Results

Definite causative genes were detected in 60/1

SUBMITTER: Park HS 

PROVIDER: S-EPMC12040603 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature