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

Alex W. Hewitt; Johan P. Poulsen; Wallace L.M. Alward; Sonya L. Bennett; Wido M. Budde; Richard L. Cooper; Jamie E. Craig; John H. Fingert; Paul J. Foster; David F. Garway-Heath; Catherine M. Green; Christopher J. Hammond; Sohan S. Hayreh; Jost B. Jonas; Paul L. Kaufman; Neil R. Miller; William H. Morgan; Nancy J. Newman; Harry A. Quigley; John R. Samples; George L. Spaeth; Konrad Pesudovs; David A. Mackey

doi:10.1167/iovs.06-1470

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

Alex W. Hewitt, Johan P. Poulsen, Wallace L.M. Alward, Sonya L. Bennett, Wido M. Budde, Richard L. Cooper, Jamie E. Craig, John H. Fingert, Paul J. Foster, David F. Garway-Heath, Catherine M. Green, Christopher J. Hammond, Sohan S. Hayreh, Jost B. Jonas, Paul L. Kaufman, Neil R. Miller, William H. Morgan, Nancy J. Newman, Harry A. Quigley, John R. SamplesGeorge L. Spaeth, Konrad Pesudovs, David A. Mackey

School of Medicine

Research output: Contribution to journal › Article › peer-review

18 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	2469-2475
Number of pages	7
Journal	Investigative Ophthalmology and Visual Science
Volume	48
Issue number	6
DOIs	https://doi.org/10.1167/iovs.06-1470
State	Published - Jun 2007

ASJC Scopus subject areas

Ophthalmology
Sensory Systems
Cellular and Molecular Neuroscience

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Hewitt, A. W., Poulsen, J. P., Alward, W. L. M., Bennett, S. L., Budde, W. M., Cooper, R. L., Craig, J. E., Fingert, J. H., Foster, P. J., Garway-Heath, D. F., Green, C. M., Hammond, C. J., Hayreh, S. S., Jonas, J. B., Kaufman, P. L., Miller, N. R., Morgan, W. H., Newman, N. J., Quigley, H. A., ... Mackey, D. A. (2007). Heritable features of the optic disc: A novel twin method for determining genetic significance. Investigative Ophthalmology and Visual Science, 48(6), 2469-2475. https://doi.org/10.1167/iovs.06-1470

Hewitt, AW, Poulsen, JP, Alward, WLM, Bennett, SL, Budde, WM, Cooper, RL, Craig, JE, Fingert, JH, Foster, PJ, Garway-Heath, DF, Green, CM, Hammond, CJ, Hayreh, SS, Jonas, JB, Kaufman, PL, Miller, NR, Morgan, WH, Newman, NJ, Quigley, HA, Samples, JR, Spaeth, GL, Pesudovs, K & Mackey, DA 2007, 'Heritable features of the optic disc: A novel twin method for determining genetic significance', Investigative Ophthalmology and Visual Science, vol. 48, no. 6, pp. 2469-2475. https://doi.org/10.1167/iovs.06-1470

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title = "Heritable features of the optic disc: A novel twin method for determining genetic significance",

abstract = "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.",

author = "Hewitt, {Alex W.} and Poulsen, {Johan P.} and Alward, {Wallace L.M.} and Bennett, {Sonya L.} and Budde, {Wido M.} and Cooper, {Richard L.} and Craig, {Jamie E.} and Fingert, {John H.} and Foster, {Paul J.} and Garway-Heath, {David F.} and Green, {Catherine M.} and Hammond, {Christopher J.} and Hayreh, {Sohan S.} and Jonas, {Jost B.} and Kaufman, {Paul L.} and Miller, {Neil R.} and Morgan, {William H.} and Newman, {Nancy J.} and Quigley, {Harry A.} and Samples, {John R.} and Spaeth, {George L.} and Konrad Pesudovs and Mackey, {David A.}",

year = "2007",

month = jun,

doi = "10.1167/iovs.06-1470",

language = "English (US)",

volume = "48",

pages = "2469--2475",

journal = "Investigative Ophthalmology and Visual Science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "6",

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TY - JOUR

T1 - Heritable features of the optic disc

T2 - A novel twin method for determining genetic significance

AU - Hewitt, Alex W.

AU - Poulsen, Johan P.

AU - Alward, Wallace L.M.

AU - Bennett, Sonya L.

AU - Budde, Wido M.

AU - Cooper, Richard L.

AU - Craig, Jamie E.

AU - Fingert, John H.

AU - Foster, Paul J.

AU - Garway-Heath, David F.

AU - Green, Catherine M.

AU - Hammond, Christopher J.

AU - Hayreh, Sohan S.

AU - Jonas, Jost B.

AU - Kaufman, Paul L.

AU - Miller, Neil R.

AU - Morgan, William H.

AU - Newman, Nancy J.

AU - Quigley, Harry A.

AU - Samples, John R.

AU - Spaeth, George L.

AU - Pesudovs, Konrad

AU - Mackey, David A.

PY - 2007/6

Y1 - 2007/6

N2 - 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.

AB - 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.

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JO - Investigative Ophthalmology and Visual Science

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ER -

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

Abstract

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