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Polygenic Risk Scores for Myopia: A Systematic Review of Predictive Performance and Clinical Potential.

Bin Mao1, Xing-Xuan Dong1, Dan-Lin Li1

  • 1School of Public Health, Suzhou Medical College of Soochow University, Suzhou, China.

Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)
|March 27, 2026
PubMed
Summary
This summary is machine-generated.

Polygenic risk scores (PRS) aid myopia prediction, especially when combined with other factors. Their accuracy varies by myopia type, ethnicity, and PRS design, requiring further validation for clinical use.

Keywords:
MyopiaPolygenic risk scorePredictive performanceSystematic review

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Area of Science:

  • Ophthalmology
  • Genetics
  • Biostatistics

Background:

  • Myopia is a growing global health concern with a significant genetic component.
  • Polygenic risk scores (PRS) are emerging tools for predicting complex disease risk based on multiple genetic variants.
  • Early identification of individuals at high risk for myopia is crucial for timely intervention and prevention strategies.

Purpose of the Study:

  • To systematically review and assess the discriminatory ability of polygenic risk scores (PRS) in predicting myopia.
  • To compare the predictive performance of different PRS models, including PRS-only and combined models.

Main Methods:

  • A systematic review adhering to PRISMA guidelines, registered in PROSPERO (CRD420251180577).
  • Searched five major databases (PubMed, Web of Science, Cochrane Library, EMBASE, Scopus) from inception to October 11, 2025.
  • Included studies developing or validating myopia prediction models incorporating PRS, assessing discrimination metrics and using PROBAST for quality assessment.

Main Results:

  • Ten studies met the inclusion criteria, evaluating various PRS models for myopia prediction.
  • PRS-only models showed moderate discrimination (AUC 0.51-0.80), while combined models integrating PRS with clinical factors achieved higher performance (AUC 0.57-0.99).
  • Performance varied by myopia phenotype, ancestry (better in Europeans), and PRS construction; combined models consistently outperformed PRS-only models.

Conclusions:

  • Polygenic risk scores (PRS) demonstrate utility in myopia risk prediction, particularly when integrated with other clinical factors.
  • Predictive performance is influenced by myopia phenotype, ethnicity, and PRS characteristics, necessitating further research.
  • Large-scale, multi-ancestry validation and implementation feasibility studies are required before routine clinical adoption for myopia prevention and risk stratification.