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乌舍尔综合征、视网膜色素变性、神经元蜡样脂褐质沉积症、老年综合征和脉络膜缺损症杂合子携带者的眼电图。

The electrooculogram in heterozygote carriers of Usher syndrome, retinitis pigmentosa, neuronal ceroid lipofuscinosis, senior syndrome and choroideremia.

作者信息

Pinckers A, van Aarem A, Brink H

机构信息

Institute of Ophthalmology, University of Nijmegen, The Netherlands.

出版信息

Ophthalmic Genet. 1994 Mar;15(1):25-30. doi: 10.3109/13816819409056907.

Abstract

Electrooculographic studies were performed in 77 carriers of tapetoretinal dystrophies: Usher syndrome (20), retinitis pigmentosa (32), neuronal ceroid lipofuscinosis (6), Senior syndrome (2), and choroideremia (17). The carriers were matched for sex and age with normal controls. In carriers of Usher syndrome the EOG Lp/Dt ratio was significantly lowered with 30% of the recordings having a subnormal value. There was a trend in carriers of retinitis pigmentosa to a subnormal EOG. In contrast to previous studies there was no decrease in the EOG Lp/Dt ratio in carriers of neuronal ceroid lipofuscinosis. Two carriers of Senior's syndrome had a normal EOG. Carriers of choroideremia did not differ significantly from normal controls; however, the Lp/Dt ratio decreased with increasing age. An abnormal EOG may be indicative of the carrier state in relatives of patients with tapetoretinal dystrophies.

摘要

对77名视网膜色素变性患者的携带者进行了眼电图研究,这些患者包括:Usher综合征(20例)、视网膜色素变性(32例)、神经元蜡样脂褐质沉积症(6例)、Senior综合征(2例)和脉络膜视网膜萎缩(17例)。携带者在性别和年龄上与正常对照组相匹配。在Usher综合征携带者中,眼电图Lp/Dt比值显著降低,30%的记录值低于正常范围。视网膜色素变性携带者有眼电图低于正常范围的趋势。与先前的研究相反,神经元蜡样脂褐质沉积症携带者的眼电图Lp/Dt比值没有下降。两名Senior综合征携带者的眼电图正常。脉络膜视网膜萎缩携带者与正常对照组没有显著差异;然而,Lp/Dt比值随年龄增长而降低。异常的眼电图可能表明视网膜色素变性患者亲属的携带者状态。

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