Ocular myopathy (progressive external ophthalmoplegia) with neuropathic complications

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.