Heritable features of the optic disc: A novel twin method for determining genetic significance
Heritable features of the optic disc: A novel twin method for determining genetic significance
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DOI：
10.1167/iovs.06-1470
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发表时间：
2007-06-01
影响因子：
4.4
通讯作者：
Mackey, David A.
中科院分区：
文献类型：
--
作者：
Hewitt, Alex W.;Poulsen, Johan P.;Mackey, David A.
目的。许多遗传疾病和环境刺激都会影响视神经形态。本研究的目的是确定基于人群的双胞胎样本中可见视神经乳头结构的主要可遗传成分。 15 位视神经专家观看了 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；Pentax Corp.，东京，日本）。在观看之前，每位专家都会被询问他们认为哪些视神经乳头特征是遗传性的。在查看标准化的伸手集合后，专家们指出了他们认为哪些双胞胎是同卵双胞胎。然后参与者被问及他们的决定是如何做出的。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值。结果。整个小组中，正确识别接合性的双胞胎比例范围为 74% 至 90%（中位数为 82%）。在超过 85% 的病例中正确识别接合性的专家最重视视盘和视杯的形状和大小，而得分最低的专家在做出决定时更重视视神经乳头脉管系统。结论。在确定视神经乳头的遗传成分时，这项研究的结果表明，视盘和视杯的形状和大小更具遗传性，并且应该比血管特征更优先地进行量化。
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 reaching 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.