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

Background High 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. Methods The 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. Findings In 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). Interpretation Performance 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 fo

Myopia risk behaviour related to the COVID-19 lockdown in Europe: The generation R study.

PURPOSE: To battle the spreading of the COVID-19 virus, nationwide lockdowns were implemented during 2020 and 2021. Reports from China revealed that their strict home confinements led to an increase in myopia incidence. The Netherlands implemented a more lenient lockdown, which allowed children to go outside. We evaluated the association between COVID-19 restrictions, myopia risk behaviour and myopia progression in Dutch teenagers. METHOD: A total of 1101 participants (mean age 16.3 ± 3.65 yrs) completed questionnaires about their activities before, during and after lockdown (March-October 2020). We used a repeated-measures ANOVA to compare time use between these time periods. Ocular measurements were acquired before the COVID-19 pandemic when participants were 13 years old; only 242 participants had ocular measurements at 18 years of age at the time of this analysis. Linear regression analyses were used to evaluate the association between lifestyle factors and myopia progression. RESULTS: Children were on average 16.2 (1.03) years of age during lockdown. Total nearwork increased from 8.11 h/day to 11.79 h/day, and remained higher after lockdown at 9.46 h/day (p < 0.001). Non-educational nearwork increased by 2.22 h/day (+49%) during lockdown and was associated with faster axial length progression (B 0.002 mm/h/year; SE 0.001 p = 0.03). Before and during lockdown, the mean time spent outdoors was similar (1.78 h/day and 1.80 h/day, respectively). After lockdown, time spent outdoors decreased to 1.56 h/day (p < 0.001). CONCLUSION: The Dutch lockdown significantly increased digitised nearwork in adolescents but did not affect outdoor exposure. The changes in time spent performing nearwork remained after the lockdown measures had ended. We expect that the COVID-19 pandemic may lead to an increase in myopia prevalence and progression in European children

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.

BACKGROUND: High 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. METHODS: The 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. FINDINGS: In 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). INTERPRETATION: Performance 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. FUNDING: Supported by the Welsh Government and Fight for Sight (24WG201)