京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第18499号 / 医博第3919号 / 新制||医||1005(附属図書館) / 31385 / 京都大学大学院医学研究科医学専攻 / (主査)教授 伊藤 壽一, 教授 河野 憲二, 教授 富樫 かおり / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第19266号 / 医博第4030号 / 新制||医||1011(附属図書館) / 32268 / 京都大学大学院医学研究科医学専攻 / (主査)教授 清水 章, 教授 野田 亮, 教授 藤渕 航 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

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Yes / Purpose: To investigate whether a genetic risk score (GRS) improved performance of predicting refractive error compared to knowing a child’s number of myopic parents (NMP) alone. Methods: This was a retrospective analysis of data from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort study. Refractive error was assessed longitudinally between age 7–15 using non-cycloplegic autorefraction. Genetic variants (n=149) associated with refractive error from a Consortium for Refractive Error And Myopia (CREAM) genome-wide association study were used to calculate a GRS for each child. Using refractive error at ages 7 and 15 years as the outcome variable, coefficient of determination (R2) values were calculated via linear regression models for the predictors: NMP, GRS and a combined model. Results: Number of myopic parents was weakly predictive of refractive error in children aged 7 years, R2=3.0% (95% CI 1.8–4.1%,p<0.0001) and aged 15 years, R2=4.8% (3.1–6.5%,p<0.0001). The GRS was also weakly predictive;age 7 years, R2=1.1% (0.4–1.9%,p<0.0001) and 15 years R2=2.6% (1.3–3.9%,p<0.0001). Combining the 2 variables gave larger R2 values at age 7, R2=3.7%(2.5–5.0%,p<0.0001) and 15, R2=7.0% (5.0–9.0%,p<0.0001). The combined model improved performance at both ages (both p<0.0001). Conclusion: A GRS improved the ability to detect children at risk of myopia independently of knowing the NMP. We speculate this may be because NMP captures information concerning environmental risk factors for myopia. Nevertheless, further gains are required to make such predictive tests worthwhile in the clinical environment. / The UK Medical Research Council and Wellcome. Grant Number: 102215/2/13/2 The University of Bristol provide core support for ALSPAC PDF. Grant Number: 459KB The College of Optometrists NIHR Senior Research Fellowship. Grant Number: SRF‐2015‐08‐005 23andMe

Purpose: Currently there are attempts to slow myopia progression by manipulating peripheral refractive error. This study proposed to establish the distribution of peripheral refractive errors in hyperopic, emmetropic and myopic children and to test the hypothesis that relative peripheral hyperopia is a risk factor in the onset and progression of myopia. Methods: Refraction was measured under non-cycloplegic conditions, at 0°, 10° (superior, inferior, temporal and nasal retina) and 30° (temporal and nasal retina), at distance and near. Central spherical equivalent refractive error (SER) was used to classify the eyes as myopic (≤ −0.75 D), emmetropic (−0.75 < SER < +0.75 D) or hyperopic (≥ +0.75 D). Relative peripheral refraction was calculated as the difference between the central (i.e. foveal) and peripheral refractive measurements. At baseline, measurements were taken from 554 children and in a subset of 300 of these same children at the follow-up visit. The time interval between initial and follow-up measurement was 9.71 ± 0.87 months. Results: Results were analysed on 528 participants (10.21 ±0.94 years old) at baseline and 286 longitudinally. At baseline, myopic children (n=61) had relative peripheral hyperopia at all eccentricities at distance and near, except at 10°-superior retina where relative peripheral myopia was observed at near. Hyperopic eyes displayed relative peripheral myopia at all eccentricities, at distance and near. The emmetropes showed a shift from relative peripheral myopia at distance to relative peripheral hyperopia at near at all eccentricities, except at 10°-superior retina, where the relative peripheral myopia was maintained at near. In the longitudinal data analysis, myopes who became more myopic did not show greater relative peripheral hyperopia at baseline compared with myopic sub-groups whose central refraction remained stable. Conclusions: The peripheral refractive profile differences between different refractive groups that are reported in other studies have been confirmed in this study. Relative peripheral hyperopia is not found to be a significant risk factor in the onset or progression of myopia in children.