Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles
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DOI：
10.1002/ana.410410306
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发表时间：
1997-03-01
影响因子：
11.2
通讯作者：
Beggs, AH
中科院分区：
文献类型：
--
作者：
Engle, EC;Goumnerov, BC;Beggs, AH
先天性眼外肌纤维化是一种常染色体显性遗传性先天性疾病，其特征为双侧上睑下垂、限制性眼外肌麻痹，眼睛部分或完全固定在下斜（向下）和斜视位置，以及明显受限和异常的残余眼球运动。人们普遍认为这些临床异常是由眼外肌肌病性纤维化引起的。我们描述了 1 号染色体相关先天性眼外肌纤维化家族成员的颅内和眼眶病理学以及另外 2 名受影响成员的肌肉病理学。动眼神经上支及其相应的α运动神经元缺失，上睑提肌和上直肌（受动眼神经上支支配的肌肉）异常。此外，在其他眼外肌中发现内部细胞核和中央线粒体聚集数量增加，表明肌肉病理超出了第三脑神经上支支配的肌肉范围。该报告提供的证据表明，眼外肌先天性纤维化是由眼外肌下运动神经元系统发育异常引起的。
Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.