Wu Li, Zhou Lian-Hong, Liu Chang-Sheng, Cha Yun-Fei, Wang Jiong, Xing Yi-Qiao
The Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan 430060, China.
Zhonghua Yan Ke Za Zhi. 2009 Nov;45(11):971-6.
The aim of this article was to investigate the structural basis of ocular motility and visual abnormalities in humans with congenital fibrosis of the extraocular muscles (CFEOM).
17 volunteers from 2 CFEOM pedigrees Clinical ophthalmic and motility examed and 18 normal control subjects were correlated with thin-sectioned magnetic resonance imaging (MRI) across the orbit and the brain-stem level.
Subjects with CFEOM had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In affected subjects, MRI demonstrated atrophy of the levator palpebrae superioris, all EOMs, and the optic nerves, and small or absent orbital motor nerves. The oculomotor nerve was most severely hypoplastic, but the abducens was also affected. Subjects with CFEOM exhibited subclinical but highly significant reduction from normal in mean optic nerve size (P < 0.05). There are also some difference between the two CFEOM pedigrees.
These findings suggest that neuronal disease is primary in CFEOM, with myopathy arising secondary to abnormal innervation and the oculomotor nucleus and trochlear nucleus of the abnormalities defects.
本文旨在研究先天性眼外肌纤维化（CFEOM）患者眼球运动和视觉异常的结构基础。
对来自2个CFEOM家系的17名志愿者进行临床眼科和眼球运动检查，并将18名正常对照者与眼眶和脑干水平的薄层磁共振成像（MRI）进行对比。
CFEOM患者有严重的双侧上睑下垂、上转受限和不同程度的眼肌麻痹。在患病个体中，MRI显示提上睑肌、所有眼外肌和视神经萎缩，眼眶运动神经细小或缺失。动眼神经发育不全最为严重，但展神经也受到影响。CFEOM患者的平均视神经大小较正常有亚临床但非常显著的减小（P < 0.05）。两个CFEOM家系之间也存在一些差异。
这些发现表明，神经元疾病在CFEOM中是原发性的，肌病是由异常神经支配继发而来，且动眼神经核和滑车神经核存在异常缺陷。
