May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Commingling of Optic Disc Parameters in an Older Australian Population
Author Affiliations & Notes
  • A.C. Viswanathan
    Glaucoma Service, Moorfields Eye Hospital, London, United Kingdom
  • R.A. Hitchings
    Glaucoma Service, Moorfields Eye Hospital, London, United Kingdom
  • P. Mitchell
    Department of Ophthalmology, University of Sydney, Sydney, Australia
  • P.R. Healey
    Department of Ophthalmology, University of Sydney, Sydney, Australia
  • P.C. Sham
    Department of Psychiatry, University of Hong Kong, Hong Kong, China
    Institute of Psychiatry, King's College, London, United Kingdom.
  • P. McGuffin
    Institute of Psychiatry, King's College, London, United Kingdom.
  • Footnotes
    Commercial Relationships  A.C. Viswanathan, None; R.A. Hitchings, None; P. Mitchell, None; P.R. Healey, None; P.C. Sham, None; P. McGuffin, None.
  • Footnotes
    Support  NEI Grant EY–12562, Australian National Medical Research Council Grants 974159, 991407, Special Trustees of Moorfields
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5821. doi:
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      A.C. Viswanathan, R.A. Hitchings, P. Mitchell, P.R. Healey, P.C. Sham, P. McGuffin; Commingling of Optic Disc Parameters in an Older Australian Population . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5821.

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

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Abstract
 
Purpose:
 

To test the hypotheses of major genetic determinants of Vertical Disc Diameter (VDD) and Vertical Cup/Disc Ratio (VCDR) under the mixed genetic model in a defined population.

 
Methods:
 

VDD and VCDR were determined by planimetry from stereo optic disc photographs in the 3654 persons attending the Blue Mountains Eye Study. After adjustment for covariates where appropriate, commingling analysis was performed on VDD and VCDR using the program SKUDRIVER1. The goodness of fit of 1–, 2– and 3–distribution models was measured using the Akaike Information Criterion (AIC).

 
Results:
 

The best models for both VDD and VCDR were 3–distribution. Model parameters are as in the Table. There was no evidence for Hardy–Weinberg disequilibrium.  

 
Conclusions:
 

The findings of this study are consistent with the presence of a major overdominant gene accounting for 22% of the variance of VDD, and a major codominant gene accounting for 59% of the variance of VCDR in this population. These findings suggest methods of optimizing strategies to identify quantitative trait loci for VDD and VCDR, which are important components of the glaucoma phenotype. 1Viswanathan AC, Hitchings RA, Indar A, Mitchell P, Healey P, McGuffin P, Sham PC. Commingling analysis of intraocular pressure and glaucoma in an older Australian population. Annals of Human Genetics 2004 Sep;68(Pt 5):489–97

 
Keywords: optic disc • genetics • clinical (human) or epidemiologic studies: biostatistics/epidemiology methodology 
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