April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Population Based Estimate Of The Sibling Recurrence Risk Ratio For Rhegmatogenous Retinal Detachment
Author Affiliations & Notes
  • Danny Mitry
    Ophthalmology, Whipps Cross University Hospital, London, United Kingdom
    Public Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
  • Linda Williams
    Public Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
  • David G. Charteris
    Vitreoretinal, Moorfields Eye Hospital, London, United Kingdom
  • Brian Fleck
    Public Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
  • Alan F. Wright
    MRC Human Genetics Unit, Edinburgh, United Kingdom
  • Harry Campbell
    Public Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
  • Footnotes
    Commercial Relationships  Danny Mitry, None; Linda Williams, None; David G. Charteris, None; Brian Fleck, None; Alan F. Wright, None; Harry Campbell, None
  • Footnotes
    Support  RCSEd Ophthalmology grant, CSO - CZB/4/705
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1236. doi:
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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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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : 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.

Methods: : 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.

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) 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.

Conclusions: : 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.

Keywords: clinical (human) or epidemiologic studies: risk factor assessment • genetics • retina 
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