Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of <i>RPGR</i> Variants in Early-Onset Disease.

ABSTRACT:

Background

Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights.

Methods

We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variatio

SUBMITTER: Hong YJ 

PROVIDER: S-EPMC12915373 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature