威廉姆斯综合征中的虹膜。
The iris in Williams syndrome.
作者信息
Holmström G, Almond G, Temple K, Taylor D, Baraitser M
机构信息
Department of Ophthalmology, Hospital for Sick Children, London.
出版信息
Arch Dis Child. 1990 Sep;65(9):987-9. doi: 10.1136/adc.65.9.987.
Abstract
Forty three children with Williams syndrome and 124 control subjects had their eyes photographed. The photographs were examined by three ophthalmologists and four geneticists of varying experience. A stellate pattern was noted more often in the irides of patients with Williams syndrome (51%) than in those of the control subjects (12%), and was more difficult to detect, or was absent, in heavily pigmented irides. We conclude that the stellate pattern is of diagnostic importance, particularly if the pattern is carefully defined and the clinician is experienced.
摘要
对43名威廉姆斯综合征患儿和124名对照受试者的眼睛进行了拍照。三位眼科医生和四位经验各异的遗传学家对照片进行了检查。在威廉姆斯综合征患者的虹膜中发现星状图案的情况（51%）比对照受试者（12%）更常见，并且在色素沉着较重的虹膜中更难检测到或不存在。我们得出结论，星状图案具有诊断意义，特别是如果该图案被仔细界定且临床医生经验丰富。
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