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Clinical and Genetic Characteristics of a Chinese Occult Maculopathy Cohort.

Translational vision science & technology - 2 Mar 2026

Jiang Zixuan, Ouyang Jiamin, Yi Zhen, Sun Wenmin, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

Purpose: To analyze the genetic basis and phenotypic features of occult maculopathy in the Chinese population. Methods: Clinical data and venous blood from probands with occult maculopathy and available family members were collected. Variants were detected using next-generation sequencing (NGS), analyzed bioinformatically, and confirmed through Sanger sequencing. Results: Heterozygous pathogenic variants in RP1L1...

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Source

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Identifiers

PMID: 41891770
DOI: 10.1167/tvst.15.3.32
PMCID: PMC13037741

Genes

RP1L1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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