Croft P B, Cutting J C, Jewesbury E C, Blackwood W, Mair W G
Acta Neurol Scand. 1977 Mar;55(3):169-97. doi: 10.1111/j.1600-0404.1977.tb05638.x.
The condition known as Ocular Myopathy or Progressive External Ophthalmoplegia is reviewed. Three hundred and thirty-five published case reports have been analyzed and 13 personal cases are described. Histological and electron microscopical studies on one of our cases are reported. It is clear from these cases that, although in its simplest form the condition may consist merely of myopathic changes confined to the upper eyelids and external ocular muscles, myopathic changes may also occur in the muscles of the face, neck and proximal parts of the limbs. In addition, however, a variety of neurological disorders may also develop and degenerative lesions have been found in the peripheral nerves, spinal cord, brain stem, and basal ganglia. Other associated conditions such as perceptive deafness, pigmentary retinal degeneration, cardiomyopathy and red cell abnormalities may also occur. There is thus a wide spectrum of syndromes, all based on a condition which is possibly a general metabolic disorder. Recent work has directed attention to mitochondrial abnormalities in the affected muscle fibers and other cells. A positive family history may be present and an autosomal dominant mode of inheritance seems likely.
本文对称为眼肌病或进行性眼外肌麻痹的病症进行了综述。分析了335篇已发表的病例报告，并描述了13例个人病例。报告了对我们其中一例病例的组织学和电子显微镜研究。从这些病例中可以清楚地看出，尽管在其最简单的形式中，该病症可能仅由局限于上睑和眼外肌的肌病性改变组成，但面部、颈部和肢体近端的肌肉也可能出现肌病性改变。然而，除此之外，还可能出现各种神经系统疾病，并且在外周神经、脊髓、脑干和基底神经节中发现了退行性病变。其他相关病症如感音神经性耳聋、色素性视网膜变性、心肌病和红细胞异常也可能发生。因此，存在广泛的综合征，所有这些综合征都基于一种可能是全身性代谢紊乱的病症。最近的研究工作已将注意力转向受影响的肌纤维和其他细胞中的线粒体异常。可能存在阳性家族史，并且似乎很可能是常染色体显性遗传模式。
