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无视交叉伴水平性眼球震颤。

Absent optic chiasm presenting with horizontal nystagmus.

作者信息

Salchow Daniel J, Kohlhase Jürgen, Miller Marijean, Kadom Nadja, FitzGibbon Edmond J, Caruso Rafael C, Brooks Brian P

机构信息

Department of Ophthalmology, Yale University School of Medicine, New Haven, CT 06510, USA.

出版信息

J Pediatr Ophthalmol Strabismus. 2010 May-Jun;47(3):187-91. doi: 10.3928/01913913-20090818-08. Epub 2010 May 20.

DOI:10.3928/01913913-20090818-08
PMID:20507004
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11473097/
Abstract

A female infant with horizontal nystagmus and normal ophthalmic examination had isolated absence of the optic chiasm on magnetic resonance imaging. Eye movements were recorded on video and reviewed. Horizontal nystagmus without see-saw nystagmus was observed. Visual evoked potential showed inter-hemispheric asymmetry compatible with the absence of crossing chiasmal fibers. Systemic abnormalities in this patient included cleft lip, preauricular skin tags, broad thumbs, and an anteriorly positioned anus, suggestive of Townes-Brock syndrome.

摘要

一名患有水平性眼球震颤且眼科检查正常的女婴，磁共振成像显示其视交叉单独缺如。对眼球运动进行了视频记录并复查。观察到仅有水平性眼球震颤，未见跷跷板样眼球震颤。视觉诱发电位显示半球间不对称，与交叉性视交叉纤维缺如相符。该患者的全身异常包括唇裂、耳前皮肤赘生物、宽拇指和肛门前置，提示为汤姆斯-布罗克综合征。

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本文引用的文献

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Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant.一名健康婴儿出现无交叉视和单侧视神经发育不全。
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Isolated absence of optic chiasm revealed by congenital nystagmus, MRI and VEPs.先天性眼球震颤、磁共振成像（MRI）和视觉诱发电位（VEP）显示孤立性视交叉缺失。
Neuropediatrics. 2003 Aug;34(4):219-23. doi: 10.1055/s-2003-42214.
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A girl without a chiasm: electrophysiologic and MRI evidence for the absence of crossing optic nerve fibers in a girl with a congenital nystagmus.一名无视交叉的女孩：一名患有先天性眼球震颤的女孩缺乏交叉视神经纤维的电生理和磁共振成像证据
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