乌舍尔综合征。提示遗传异质性的眼科和神经耳科学表现。
Usher's syndrome. Ophthalmic and neuro-otologic findings suggesting genetic heterogeneity.
作者信息
Fishman G A, Kumar A, Joseph M E, Torok N, Anderson R J
出版信息
Arch Ophthalmol. 1983 Sep;101(9):1367-74. doi: 10.1001/archopht.1983.01040020369005.
Abstract
The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.
摘要
通过眼科和神经耳科学检查对70例患有Usher综合征的患者的病情进行了研究。根据听力损害、前庭敏感性以及在较小程度上视网膜光感受器功能的恶化情况，可辨别出两种不同的临床和推测的遗传类型。区分这两种类型对于Usher综合征患者的诊断和遗传咨询都具有重要意义。
Zotero 插件