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Article

Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.

BMC medical genomics - 25 Feb 2026

Han Chunxiao, Wu Shanshan, Yang Yang, Yang Xiangchun, Li Haibo

Abstract excerpt

BACKGROUND: Identification of genetic variations associated with early-onset high myopia (eoHM) provides a genetic basis for risk assessment and prevention of this disease. METHODS: Whole-exome sequencing (WES) was performed on 41 probands with eoHM with or without other abnormalities. RESULTS: Sixteen high myopia-associated variants identified in 13 probands involved 13 genes comprising 11 autosomal dominant and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41742148
DOI: 10.1186/s12920-026-02334-5
PMCID: PMC13040719

Genes

ARR3
COL2A1
ID2
SNRNP200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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