Elevation of one eye during tooth brushing
Elevation of one eye during tooth brushing
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DOI：
10.1016/s0002-9394(02)01540-4
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发表时间：
2002-09-01
影响因子：
4.2
通讯作者：
Engle, EC
中科院分区：
文献类型：
--
作者：
Gottlob, I;Jain, S;Engle, EC
目的：描述一名先天性眼外肌纤维化（CFEOM）且刷牙时一只眼睛抬高的患者。方法：对一名 9 个月大的女孩进行全面的眼科检查。对 CFEOM2 ARIX 基因的外显子和侧翼内含子序列进行了测序。结果：该患者的临床表现与经典 CFEOM 一致，包括下巴抬高、双侧下垂、眼球下移、无自愿眼球抬高超过中线以及尝试向上凝视时会聚。刷牙时，她的右眼抬高到中线以上。这仅是通过触摸牙齿或牙龈引起的，而不是通过嘴巴运动引起的。未检测到 ARIX 突变。结论：这是第一例 CFEOM 和上直肌神经与三叉神经之间异常再生的病例。这种异常的神经支配支持 CFEOM 中颅神经的原发性发育异常。 (C) 2002 年，Elsevier Science Inc. 保留所有权利。
PURPOSE: To describe a patient with congenital fibrosis of the extraocular muscles (CFEOM) and elevation of one eye during tooth brushing.METHODS: A 9,month-old girl underwent full ophthalmologic examination. Exonic and flanking intronic sequences of the CFEOM2 ARIX gene were sequenced.RESULTS: The patient's clinical findings were consistent with classic CFEOM including chin elevation, bilateral ptosis, infraducted globes, no voluntary ocular elevation beyond midline, and convergence on attempted upgaze. During tooth brushing her right eye elevated beyond midline. This was elicited only by touching her teeth or gums but not by mouth movements. No ARIX mutations were detected.CONCLUSION: This is the first case described with CFEOM and aberrant regeneration between the nerve to the superior rectus and the trigeminal nerve. This aberrant innervation supports a primary developmental abnormality of the cranial nerves in CFEOM. (C) 2002 by Elsevier Science Inc. All rights reserved.