PURPOSE: The influence of genetic predisposition on nonsyndromic primary rhegmatogenous retinal detachment (RRD) is poorly characterized. The purpose of this study was to investigate the magnitude of genetic risk for RRD. METHODS: All participants (probands) in the Scottish Retinal Detachment Study (N = 922) with known postal addresses were contacted by questionnaire to assess the personal and family history of RRD. Sibling affection status was modeled by logistic regression and generalizing estimating equations accounting for the effect of proband covariates of age, sex, spherical equivalent refraction, index birth order, and body mass index (BMI). Sibling-sibling recurrence risk ratios (λs) and parent-offspring recurrence risk ratios were calculated. RESULTS: Sixty-five percent of probands returned completed questionnaires. Of these, 602 families (parents, siblings, offspring), 7.8% (47) had one affected member, and 0.5% (3) had two affected members. A total of 501 sibships were included in the regression analysis. The odds ratio (OR) that a sibling would be affected, given another affected sibling, was 1.91 (95% confidence interval [CI], 1.18-3.05). With adjustment for age and sex, the OR that a sibling would be affected increased by 9.8% for each additional diopter of spherical equivalent refractive error (SER) toward myopia in the proband. The λs and the parent-offspring recurrence risk ratio of RRD were 2.1 (95% CI, 1.3-3.2) and 2.9 (95% CI, 1.9-4.2), respectively. CONCLUSIONS: Genetic factors are important in the etiology of myopic and nonmyopic RRD. The risk of having an affected sibling with RRD increases twofold, given that a sibling has had the condition. The sibling risk increases with the level of spherical equivalent myopia in the proband.
PURPOSE: The influence of genetic predisposition on nonsyndromic primary rhegmatogenous retinal detachment (RRD) is poorly characterized. The purpose of this study was to investigate the magnitude of genetic risk for RRD. METHODS: All participants (probands) in the Scottish Retinal Detachment Study (N = 922) with known postal addresses were contacted by questionnaire to assess the personal and family history of RRD. Sibling affection status was modeled by logistic regression and generalizing estimating equations accounting for the effect of proband covariates of age, sex, spherical equivalent refraction, index birth order, and body mass index (BMI). Sibling-sibling recurrence risk ratios (λs) and parent-offspring recurrence risk ratios were calculated. RESULTS: Sixty-five percent of probands returned completed questionnaires. Of these, 602 families (parents, siblings, offspring), 7.8% (47) had one affected member, and 0.5% (3) had two affected members. A total of 501 sibships were included in the regression analysis. The odds ratio (OR) that a sibling would be affected, given another affected sibling, was 1.91 (95% confidence interval [CI], 1.18-3.05). With adjustment for age and sex, the OR that a sibling would be affected increased by 9.8% for each additional diopter of spherical equivalent refractive error (SER) toward myopia in the proband. The λs and the parent-offspring recurrence risk ratio of RRD were 2.1 (95% CI, 1.3-3.2) and 2.9 (95% CI, 1.9-4.2), respectively. CONCLUSIONS: Genetic factors are important in the etiology of myopic and nonmyopic RRD. The risk of having an affected sibling with RRD increases twofold, given that a sibling has had the condition. The sibling risk increases with the level of spherical equivalent myopia in the proband.
Authors: Edward J Casswell; David Yorston; Edward Lee; Tjebo F C Heeren; Nicola Harris; Tapiwa Margaret Zvobgo; Sonali Tarafdar; Wen Xing; Elli Bourmpaki; Catey Bunce; Pearse Keane; David G Charteris Journal: JAMA Ophthalmol Date: 2020-06-01 Impact factor: 7.389
Authors: Thibaud S Boutin; David G Charteris; Aman Chandra; Susan Campbell; Caroline Hayward; Archie Campbell; Priyanka Nandakumar; David Hinds; Danny Mitry; Veronique Vitart Journal: Hum Mol Genet Date: 2020-03-13 Impact factor: 6.150
Authors: Dingding Zhang; Yi Shi; Bo Gong; Fei He; Fang Lu; He Lin; Zhengzheng Wu; Jing Cheng; Bin Chen; Shihuang Liao; Shi Ma; Jianbin Hu; Zhenglin Yang Journal: Mol Vis Date: 2011-12-24 Impact factor: 2.367
Authors: Salvatore Di Lauro; Melissa Castrejón; Itziar Fernández; Jimena Rojas; Rosa M Coco; María R Sanabria; Enrique Rodríguez de la Rua; J Carlos Pastor Journal: J Ophthalmol Date: 2015-11-12 Impact factor: 1.909