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Article

Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.

Ophthalmology. Retina - 1 Mar 2025

Lee Seok Jae, Jiang Hui, Jeong Hyun Chul, Jo Dong Hyun, Song Hyun Beom, Gee Heon Yung, Lee Ki Hwang, Kim Jeong Hun

Abstract excerpt

PURPOSE: To assess the correlation between genotype and phenotype severity in X-linked juvenile retinoschisis (XLRS) by examining clinical and genetic features of a cohort of Korean XLRS patients. DESIGN: Retrospective, observational study. PARTICIPANTS: Data from 83 consecutive male patients with molecularly confirmed XLRS were collected retrospectively. METHODS: Clinical evaluation included best-corrected...

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Source

Identifiers

PMID: 39293640
DOI: 10.1016/j.oret.2024.09.007

Genes

RS1
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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