[Pigmentary degeneration of the retina: neurological and biochemical findings (author's transl)].
A report on the neurological results of an investigation carried out on 38 patients with pigmentary degeneration of the retina. The ophthalmological investigation did not indicate a systemic disease. The neurological findings, however, revealed a systemic disorder in many cases.-The constitutions of 20 patients (52.5%) were marked by pathological stigmata. The EEG was abnormal in more than 50% of the cases. The EMG showed a prolonged nerve conduction time for 2 of a total of 4 deaf patients. The EMG also revealed a patient with both pigmentary degeneration of the retina and a mold form of myasthenia gravis. The biochemical results indicated hyperlipoproteinemia in 6 cases (15.8%), diabetes mellitus in 2 cases and a pathological increase of uric acid in the serum in 8 cases. These results suggest that pigmentary degeneration of the retina is not a homogenous disease. It must be seen as a "phenomenologically identical, polygenetic type of reaction" (Janzen). A comprehensive analysis of the individual case can therefore lead to implications which are of direct therapeutic significance.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001824:Body Constitution; D002648:Child; D048909:Diabetes Complications; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D006311:Hearing Disorders / Q000150:complications; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D009460:Neurologic Examination; D012174:Retinitis Pigmentosa / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D014527:Uric Acid / Q000097:blood
D014527:Uric Acid
Klinisch-neurologische und biochemische Befunde bei der Retinopathia pigmentosa