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Heritable features of the optic disc: a novel twin method for determining genetic significance


Hewitt, AW and Poulsen, JP and Alward, WLM and Bennett, SL and Budde, WM and Cooper, RL and Craig, JE and Fingert, JH and Foster, PJ and Garway-Heath, DF and Green, CM and Hammond, CJ and Hayreb, SS and Jonas, JB and Kaufman, PL and Miller, NR and Morgan, WH and Newman, NJ and Quigley, HA and Samples, JR and Spaeth, GL and Pesudovs, K and Mackey, DA, Heritable features of the optic disc: a novel twin method for determining genetic significance, Investigative Ophthalmology & Visual Science, 48, (6) pp. 2469-2475. ISSN 0146-0404 (2007) [Refereed Article]

DOI: doi:10.1167/iovs.06-1470


Purpose: Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins.

Methods: Fifteen optic nerve specialists viewed stereoscopic optic nerve head photographs (Stereo Viewer-II; Pentax Corp., Tokyo, Japan) from 50 randomly selected monozygotic or dizygotic twin pairs. Before viewing, each expert was questioned about which optic nerve head traits they believed were inherited. After viewing a standardized teaching set, the experts indicated which twin pairs they thought were monozygotic. Participants were then questioned about how their decisions were reached. A rank-ordered Rasch analysis was used to determine the relative weighting and value applied to specific optic nerve head traits.

Results: The proportion of twin pairs for which zygosity was correctly identified ranged from 74% to 90% (median, 82%) across the panel. Experts who correctly identified the zygosity in more than 85% of cases placed most weighting on shape and size of the optic disc and cup, whereas experts with the lowest scores placed greater weighting on the optic nerve head vasculature in reaching their decisions.

Conclusions: In determining the genetic components of the optic nerve head, the results of this study suggest that the shape and size of the optic disc and cup are more heritable and should receive a greater priority for quantification than should vascular features.

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:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:50080
Year Published:2007
Web of Science® Times Cited:20
Deposited By:Medicine
Deposited On:2007-08-01
Last Modified:2014-10-08

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