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Article

Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.

The British journal of ophthalmology - 20 May 2026

Wang Liyin, Cao Jian, Yang Dongmei, Yu Yanze, Wang Zhanying, Xing Shilai, Wang Mingcheng, Yu Xiaoguang, Zhou Xingtao, Zhao Jing

Abstract excerpt

AIM: This study aimed to identify the loci of gene mutations associated with high myopia, analyse the genetic mutation spectrum characteristics for early onset high myopia (eo-HM) and explore the application of polygenic risk scores (PRSs) in predicting eo-HM. METHODS: Whole-exome sequencing (WES) and ophthalmic measurements were performed on participants with high myopia, and the mutation results were further...

Topics

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Age of Onset
DNA Copy Number Variations
DNA Mutational Analysis
Exome Sequencing
Myopia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopia, Degenerative

Refraction, Ocular

Source

Open in PubMed Open full text

Identifiers

PMID: 41344850
DOI: 10.1136/bjo-2025-327552
PMCID: PMC13217036

Genes

AIPL1
ARR3
COL2A1
GLRA2
HDAC8
INPP5E
SALL4
TCF7L2
ZEB1

Variants

Provenance

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

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