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Article

From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China.

Journal of medical genetics - 24 Sept 2024

Wu Jiawen, Li Junfeng, Zhang Daowei, Liu Hongli, Li Ting, Xu Ping, Zhao Yingke, Li Chenchen, Hu Fangyuan, Li Qian, Zhang Shenghai, Wu Ji-Hong

Abstract excerpt

BACKGROUND: Variants in the RPGR are the leading cause of X-linked retinopathies (XLRPs). Further in-depth investigation is needed to understand the natural history. METHODS: Review of all case records, molecular genetic testing results, best-corrected visual acuity (BCVA), retinal imaging data (including fundus autofluorescence imaging and optical coherence tomography (OCT)), static visual field (VF) assessments...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 39153854
DOI: 10.1136/jmg-2024-110088

Genes

RPGR
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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