ArticleEBioMedicine2023
A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration.
Article in EBioMedicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 4 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 4 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Polygenic Risk Scores for Myopia: A Systematic Review of Predictive Performance and Clinical Potential.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2026Pooled it
- Multi-ancestry genome-wide association analyses of refractive error augment genetic discovery and polygenic prediction.Nature genetics · 2026Pooled it
- Artificial intelligence in pathologic myopia: a review of clinical research studies.Frontiers in medicine · 2025Pooled it
- The association between screen time exposure and myopia in children and adolescents: a meta-analysis.BMC public health · 2024Pooled it
- Integrating Polygenic Risk and Ocular Phenotyping Reveals an Axial-Length-Dominant Mechanism in High and Extreme High Myopia.Ophthalmology science · 2026Article
- Analysis of gene mutation spectrum for early-onset high myopia based on whole-exome sequencing.The British journal of ophthalmology · 2026Article
- Advances in the genetics of refractive errors: Contributions from the CREAM consortium.Acta ophthalmologica · 2026Review
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- An innovative diagnostic method for myopia using blood-based biomemristor.Materials today. Bio · 2025Article
- Predictive Utility of Genetic Risk for Myopic Maculopathy Presence and Progression in a Chinese High Myopia Cohort.Investigative ophthalmology & visual science · 2025Article
- IMI-Myopia Genetics Report.Investigative ophthalmology & visual science · 2025Review
- IMI-2025 Digest.Investigative ophthalmology & visual science · 2025Article
- Revisiting the Trans-Ancestry Genetic Correlation of Refractive Error.Investigative ophthalmology & visual science · 2025Article
- Perspectives on Genetic and Environmental Factors in Myopia, Its Prediction, and the Future Direction of Research.Investigative ophthalmology & visual science · 2025Review
- Genome-wide association studies, Polygenic Risk Scores and Mendelian randomisation: an overview of common genetic epidemiology methods for ophthalmic clinicians.The British journal of ophthalmology · 2025Review
- Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.Communications medicine · 2024Article
- Forecasting Myopic Maculopathy Risk Over a Decade: Development and Validation of an Interpretable Machine Learning Algorithm.Investigative ophthalmology & visual science · 2024Article
- Changes in Refractive Error During Young Adulthood: The Effects of Longitudinal Screen Time, Ocular Sun Exposure, and Genetic Predisposition.Investigative ophthalmology & visual science · 2023Article
- Time Spent Outdoors Partly Accounts for the Effect of Education on Myopia.Investigative ophthalmology & visual science · 2023Article
- Shaping the future of myopia with artificial intelligence: Mapping trends and promising directions.Advances in ophthalmology practice and researchArticle
Corrections and comments
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Authors and funding
19 authors at 10 institutions in 7 countries.
Funding
Abstract
backgroundHigh myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degeneration (MMD). We aimed to derive an improved polygenic score (PGS) for predicting children at risk of HM and to test if a PGS is predictive of MMD after accounting for SER.
methodsThe PGS was derived from genome-wide association studies in participants of UK Biobank, CREAM Consortium, and Genetic Epidemiology Research on Adult Health and Aging. MMD severity was quantified by a deep learning algorithm. Prediction of HM was quantified as the area under the receiver operating curve (AUROC). Prediction of severe MMD was assessed by logistic regression.
findingsIn independent samples of European, African, South Asian and East Asian ancestry, the PGS explained 19% (95% confidence interval 17-21%), 2% (1-3%), 8% (7-10%) and 6% (3-9%) of the variation in SER, respectively. The AUROC for HM in these samples was 0.78 (0.75-0.81), 0.58 (0.53-0.64), 0.71 (0.69-0.74) and 0.67 (0.62-0.72), respectively. The PGS was not associated with the risk of MMD after accounting for SER: OR = 1.07 (0.92-1.24).
interpretationPerformance of the PGS approached the level required for clinical utility in Europeans but not in other ancestries. A PGS for refractive error was not predictive of MMD risk once SER was accounted for.
fundingSupported by the Welsh Government and Fight for Sight (24WG201).
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.