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

Li Tang; Todd E Scheetz; David A Mackey; Alex W Hewitt; John H Fingert; Young H Kwon; Gwenole Quellec; Joseph M Reinhardt; Michael D Abràmoff

doi:10.1167/iovs.10-5527

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

Journal article

Open access

Peer reviewed

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

Li Tang, Todd E Scheetz, David A Mackey, Alex W Hewitt, John H Fingert, Young H Kwon, Gwenole Quellec, Joseph M Reinhardt and Michael D Abràmoff

Investigative ophthalmology & visual science, Vol.51(11), pp.5870-5877

11/2010

DOI: 10.1167/iovs.10-5527

PMCID: PMC3061515

PMID: 20505201

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Abstract

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. 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). 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. 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.

Photography

Phenotype

Young Adult

Optic Disk - anatomy & histology

Quantitative Trait, Heritable

Twins, Monozygotic - genetics

Humans

Middle Aged

Adolescent

Adult

Imaging, Three-Dimensional

Twins, Dizygotic - genetics

Details

Title: Subtitle: Automated quantification of inherited phenotypes from color images: a twin study of the variability of optic nerve head shape
Creators: Li Tang - Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA
Todd E Scheetz
David A Mackey
Alex W Hewitt
John H Fingert
Young H Kwon
Gwenole Quellec
Joseph M Reinhardt
Michael D Abràmoff
Resource Type: Journal article
Publication Details: Investigative ophthalmology & visual science, Vol.51(11), pp.5870-5877
DOI: 10.1167/iovs.10-5527
PMID: 20505201
PMCID: PMC3061515
NLM abbreviation: Invest Ophthalmol Vis Sci
ISSN: 0146-0404
eISSN: 1552-5783
Publisher: United States
Grant note: R01 EY017066 / NEI NIH HHS R01 EY018853 / NEI NIH HHS
Language: English
Date published: 11/2010
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Radiology; Electrical and Computer Engineering; Ophthalmology and Visual Sciences
Record Identifier: 9983806279102771

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