May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Genetic influence on intraocular pressure in children: the Twins Eye Study in Tasmania.
Author Affiliations & Notes
  • J.R. MacKinnon
    Ophthalmology, Raigmore Hospital, Inverness, United Kingdom
  • S.A. Brown
    Ophthalmology, Menzies Centre for Population Health Research, Hobart, United Kingdom
    Ophthalmology, Royal Australian and New Zealand College of Ophthalmology, Sydney, Australia
  • J.L. Pouslen
    Ophthalmology, University of Wales, Cardiff, United Kingdom
  • C.J. Hammond
    The Twin Research and Genetic Epidemiology Unit, St Thomas' Hospital, London, United Kingdom
  • L.S. Kearns
    Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
  • L.W. Scotter
    Ocular Diagnostic Clinic, Royal Victorian Eye and Ear Hospital, East Melbourne, United Kingdom
  • D.A. Mackey
    Ophthalmology, Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Australia
    Ophthalmology, Royal Hobart Hospital, Hobart, Australia
  • Footnotes
    Commercial Relationships  J.R. MacKinnon, None; S.A. Brown, None; J.L. Pouslen, None; C.J. Hammond, None; L.S. Kearns, None; L.W. Scotter, None; D.A. Mackey, None.
  • Footnotes
    Support  ORIA, Eye Ear Nose Research Institute, Jack Brockhoff Foundation, Clifford Craig Medical Trust
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4390. doi:
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      J.R. MacKinnon, S.A. Brown, J.L. Pouslen, C.J. Hammond, L.S. Kearns, L.W. Scotter, D.A. Mackey; Genetic influence on intraocular pressure in children: the Twins Eye Study in Tasmania. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4390.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose:Raised intraocular pressure (IOP) is a major contributing factor in glaucoma. Although there are some genes associated with high–pressure glaucoma, little is known about the heritability of IOP. A classic twin study was conducted to establish the relative importance of genes and environment to IOP. Methods: Twin children from the Twins Eye Study in Tasmania had IOP measured by a Tonopen (Mentor). Zygosity was assessed by parental questionnaire and DNA analysis. Best–fit structural equation modelling was performed using the Mx program to estimate the proportion of variance explained by genetic and environmental effects. Results:Of 149 twin pairs examined in the study, IOP measurements were obtained for both twins in 42 MZ pairs (mean age+SD: 10.2+2.5 years) and 63 DZ pairs (mean age+SD: 10.4+2.5 years), ranging from 5.1 to 16.6 years of age. Mean IOP was 16.3mmHg +2.80 for the MZ pairs and 16.0+3.31 for the DZ pairs. Age was not significantly correlated with IOP (p=0.60). The correlation coefficient of mean IOP for MZ pairs was 0.65, compared to 0.37 for DZ pairs, suggesting a genetic component. Modelling results estimated a heritability of IOP of 0.70 (95% CI 0.52–0.81), with the rest of the variance explained by unique environment/measurement error (0.30, 95% CI 0.19–0.48), and no shared environment or dominant genetic effects. Conclusions: Genetic influences seem to be important in IOP in children, explaining around 70% of the variance in this group of twins.

Keywords: genetics • intraocular pressure 
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