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Danny Mitry, Linda Williams, David G. Charteris, Brian Fleck, Alan F. Wright, Harry Campbell; Population Based Estimate Of The Sibling Recurrence Risk Ratio For Rhegmatogenous Retinal Detachment. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1236.
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Rhegmatogenous retinl detachment is a common sight threatening condition. The influence of genetic predisposition on non-syndromic primary RRD is poorly characterised. The aim of this study was to investigate the magnitude of genetic risk for RRD.
All participants (probands) with known postal addresses in the Scottish Retinal Detachment study (N=922) were contacted by questionnaire to assess personal and family history of RRD. Sibling affection status was modelled using logistic regression and generalising estimating equations accounting for the effect of proband covariates of age, gender, spherical equivalent refraction, index birth order and BMI. Sibling-sibling recurrence risk ratios (s) and parent-offspring recurrence risk ratios were calculated.
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) of a sibling being affected given another affected sibling was 1.91 (95%CI: 1.18-3.05). Adjusting for age and gender, the OR of a sibling being affected increased by 9.8% for each additional dioptre of spherical equivalent refractive error (SER) towards myopia in the proband. The s and the parent-offspring recurrence risk ratio of RRD was 2.1 (95% CI=1.3-3.2) and 2.9 (95%CI= 1.9-4.2) respectively.
Genetic factors are important in the etiology of myopic and non-myopic RRD. The risk of having an affected sibling with RRD increases 2-fold given that a sibling has had the condition. The sibling risk increases with the level of spherical equivalent myopia in the proband.
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