Hewitt Alex W, Poulsen Johan P, Alward Wallace L M, Bennett Sonya L, Budde Wido M, Cooper Richard L, Craig Jamie E, Fingert John H, Foster Paul J, Garway-Heath David F, Green Catherine M, Hammond Christopher J, Hayreh Sohan S, Jonas Jost B, Kaufman Paul L, Miller Neil R, Morgan William H, Newman Nancy J, Quigley Harry A, Samples John R, Spaeth George L, Pesudovs Konrad, Mackey David A
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Invest Ophthalmol Vis Sci. 2007 Jun;48(6):2469-75. doi: 10.1167/iovs.06-1470.
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.
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.
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.
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.
众多遗传疾病和环境刺激会影响视神经形态。本研究的目的是在一项基于人群的双胞胎样本中确定可见视神经乳头结构的主要遗传成分。
15位视神经专家查看了来自50对随机选择的同卵或异卵双胞胎的立体视神经乳头照片（Stereo Viewer-II；日本东京宾得公司）。在查看之前，每位专家被问及他们认为哪些视神经乳头特征是可遗传的。在查看一组标准化的教学图片后，专家们指出他们认为哪些双胞胎对是同卵的。然后询问参与者他们是如何做出决定的。使用排序Rasch分析来确定应用于特定视神经乳头特征的相对权重和价值。
整个专家组中能正确识别双胞胎对合子性的比例在74%至90%之间（中位数为82%）。在超过85%的病例中能正确识别合子性的专家在做出判断时，将最大权重放在视盘和视杯的形状和大小上，而得分最低的专家在做出决定时对视神经乳头血管系统给予了更大权重。
在确定视神经乳头的遗传成分时，本研究结果表明，视盘和视杯的形状和大小更具遗传性，与血管特征相比，在进行量化时应给予更高优先级。
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