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  • Genetic Data May Predict Myopia in Children

    By Lynda Seminara
    Selected and Reviewed By: Neil M. Bressler, MD, and Deputy Editors
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    Journal Highlights

    JAMA Ophthalmology, January 2020

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    Mojarrad et al. focused on whether genetic data may identify children at risk of developing myopia and whether including genetic predisposition to educational attainment may improve the accuracy of myopia prediction. In their study, the area under the curve for predicting myopia by polygenic risk score (PRS) was 0.67 for any myopia and 0.73 for high myopia, the latter being commonly linked to PRS in the top 10%.

    This meta-analysis used data from three genome-wide association studies (GWAS). One GWAS pertained to educational attainment and the others to refractive error; all three were from the UK Biobank. A PRS had been derived from the cohort of mothers in an earlier population-based validation sample, the Avon Longitudinal Study of Parents and Children. The predictive variable was a PRS derived from GWAS data for refractive error (n = 95,619), the age a child began wearing specta­cles (n = 287,448), and educational attainment (n = 328,917). The main outcome measure was area under the receiver operating characteristic curve (AUROC) in analyses for predicting myopia, using noncycloplegic auto-refraction measurements to denote myopia severity: equal to or less than −0.75 D (any myopia), −3.00 D (moderate myopia), and −5.00 D (high myopia), respectively.

    Data for 383,067 adults between the ages of 40 and 69 were entered into the analyses. The PRS was found to have an AUROC of 0.67 for predicting any type of myopia, 0.75 for predicting moderate myopia, and 0.73 for predicting high myopia. Incorporating PRS data on genetic predisposition to education­al attainment improved the AUROC marginally for any myopia but not for moderate or high myopia. PRS in the top 10% denoted a 6.1-fold greater risk of high myopia.

    This research suggests that a person­alized medicine approach to myopia may be feasible for predicting myopia risk in very young children. However, the predictive accuracy of PRS would need improvement to merit its use in clinical practice, said the authors, who noted that “cycloplegic autorefraction remains a better indicator of myopia risk” (AUROC of 0.87), particularly in children older than age 6.

    The original article can be found here.