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Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape


Tang, L and Scheetz, TE and Mackey, DA and Hewitt, A and Fingert, JH and Kwon, YH and Quellec, G and Reinhardt, JM and Abramoff, MD, Automated quantification of inherited phenotypes from color images: A twin study of the variability of optic nerve head shape, Investigative Ophthalmology and Visual Science (Iovs), 51, (11) pp. 5870-5877. ISSN 0146-0404 (2010) [Refereed Article]

DOI: doi:10.1167/iovs.10-5527


Discovery and description of heritable optic nerve head (ONH) phenotypes have been haphazard. In this preliminary study, the authors test the hypothesis that inheritable phenotypes can be discovered and quantified computationally by estimating three-dimensional ONH shape parameters from stereo color photographs from the Twins Eye Study in Tasmania and determining how much of the variability in ONH shape is accounted for by genetic influence. METHODS. Three-dimensional ONH shape was estimated by an automated algorithm from stereoscopic optic disc color photographs of a random sample of 172 subjects (344 eyes, 45 pairs of monozygotic [MZ] and 41 dizygotic [DZ] twins). Shape resemblances between eyes were quantified with a distance metric. The heritability of the shape resemblance was determined both through the distribution of the discongruence indices and through structural equation modeling techniques (ACE model). RESULTS. Significantly different discongruence indices were found for MZ (1.0286; 95% CI, 0.9872-1.0701) and DZ twins (1.4218; 95% CI, 1.2631-1.5804); larger indices for DZ twins indicated that variability was substantially determined by genetic factors. The standardized variances of the A(dditive genetic), C(ommon environmental), and (nonshared) E(nvironmental) components were 0.80, 2.00 10 -15 and 0.20, respectively, for all OD, and 0.79, 3.24 10 -14, and 0.21 for all OS. CONCLUSIONS. This preliminary study shows that quantitative phenotyping of the ONH shape from color images leads to phenotypes that can be measured and are largely under genetic control. The association of these inherited phenotypes with genotypes deserves confirmation and further study. Association for Research in Vision and Ophthalmology.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, A (Professor Alex Hewitt)
ID Code:95206
Year Published:2010
Web of Science® Times Cited:7
Deposited By:Medicine
Deposited On:2014-09-26
Last Modified:2014-09-26

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