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Article

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

Annals of laboratory medicine - 1 Mar 2026

Hong Youn-Ji, Hwang Sungsoon, Jang Ja-Hyun, Kim Jong-Won, Kim Sang Jin, Jang Mi-Ae

Abstract excerpt

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...

Topics

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Age Factors
Age of Onset
DNA Copy Number Variations
Extracellular Matrix Proteins
Eye Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High-Throughput Nucleotide Sequencing

Republic of Korea

Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 41457516
DOI: 10.3343/alm.2025.0146
PMCID: PMC12915373

Genes

RPGR
EYS
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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