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

Ophthalmic Physiol Opt. 2026 Mar 27. doi: 10.1007/s44402-026-00062-y. Online ahead of print.

ABSTRACT

PURPOSE: Given the genetic predisposition to myopia, polygenic risk scores (PRS) have been proposed as a tool for early risk identification. This study assessed the discriminatory ability of PRS in myopia prediction systematically and compared the performance of different PRS models.

METHODS: This systematic review followed PRISMA guidelines and was preregistered in PROSPERO (CRD420251180577). Five databases (PubMed, Web of Science, Cochrane Library, EMBASE and Scopus) were searched from inception to October 11, 2025. Eligible studies were required to develop or validate myopia prediction models that incorporated PRS and to report at least one discrimination metric. The methodological quality and risk of bias were assessed independently using the Prediction Model Risk of Bias Assessment Tool (PROBAST).

RESULTS: Ten studies met the inclusion criteria. The discriminatory performance of PRS-only models ranged from an area under the receiver operating characteristic curve (AUC) of 0.51-0.80, whereas combined models integrating PRS with clinical or other factors demonstrated a higher performance range (AUC 0.57-0.99). Predictive performance varied according to myopia phenotype, ancestry, and PRS construction strategy. Models tended to achieve stronger discrimination for high or moderate myopia compared with low myopia, and performed better in European populations than in other ancestry groups. Increasing the number of single-nucleotide polymorphisms included in the PRS yielded only modest incremental improvements in predictive accuracy. Across all comparisons, combined models consistently outperformed PRS-only models.

CONCLUSIONS: PRS contributes to myopia risk prediction, particularly when integrated with clinical or other risk factors, and its predictive performance varies across myopia phenotype, ethnicity, age and the number of single-nucleotide polymorphisms. Further large-scale, multi-ancestry validation and evaluation of implementation feasibility are needed before PRS can be incorporated effectively into routine myopia prevention and risk stratification strategies.

PMID:41894138 | DOI:10.1007/s44402-026-00062-y