Myopathy associated with pigmentary degeneration of the retina and high protein content of cerebrospinal fluid.

Harenko and Lapallainen 4 (1962) reported a case of chronic progressive ophtalmoplegia with pigmentary degeneration of the retina, also referring 5 similar reports. A s s i s 1 (1967) published the case of a 16-year-old female patient with progressive ophthalmoplegia, which began with palpebral ptosis and pigmentary degeneration of the retina, spreading to the macular regions; biopsy of the left superior rectus muscle showed a dystrophic process, i .e . , a myopathy. O l s o n 6 reported 7 cases of progressive ophthalmoplegia (patients' ages varied between 11 and 47 years, the period of time from the onset of the disease varying between 3 and 12 years) in which the biopsy of clinically normal limb muscles showed alterations confirming the existence of a myopathy. A biopsy revealing myopathy and the external ophtalmoplegia were common in all these patients. Three of them displayed pigmentary retinosis; three had a slight motor deficit in the limb girdle muscles; four had electroencephalographic abnormalities; in 5 of the cases which underwent a cerebrospinal fluid examination, a high protein content was encountered; in four cases the muscle biopsy showed alterations which suggested a lesion of the peripheral motor nerve; none of the cases suggested progressive muscular dystrophy with serious motor deficit in the limb girdle muscles. Kearn, quoted by E n g e l 2 , reported the case of a myopathic patient with external ophtalmoplegia associated with cardiomyopathy and pigmentary degeneration of the retina. Murakami and M u k a n o 5 reported the case of a 25-year-old patient suffering from external ophtalmoplegia, dysphonia, dysphagia, and muscle atrophies in the face, neck and limb girdle regions; this condition which appeared when the patient was 11 years old, developed slowly and was accompanied by a degeneration of the retina. The electromyographic examination showed myopathic characteristics. N o similar reports were encountered in present day literature.