ArticleThe British journal of ophthalmology2026
Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.
Article in The British journal of ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimThis 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.
methodsWhole-exome sequencing (WES) and ophthalmic measurements were performed on participants with high myopia, and the mutation results were further verified by copy number variation sequencing, long range PCR and Sanger sequencing. Participants were classified into eo-HM (onset age<7 years and binocular spherical equivalent refraction <-6.0 dioptres (D)) and late-onset high myopia (lo-HM). PRS was calculated and assessed for eo-HM prediction accuracy through receiver operating characteristic (ROC) curve metrics.
resultsThe participants comprised 100 patients with high myopia. WES identified 36 variants across 35 of 100 patients (35.00%), with the eo-HM group exhibiting a significantly higher detection rate (56.52%) than the lo-HM group (16.67%) (p<0.001).
conclusionThis study expands the eo-HM mutational spectrum and proposes novel HM pathogenic genes. PRS demonstrates a certain ability to predict eo-HM.
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