[Clinical-neurological and electromyographical studies of inpatients isolated with selective pigmentary retinopathy].
1. 37 patients with pigmentary retinopathy, seeming otherwise healthy, were thoroughly examined for fine symptoms in other parts of the body, in particular for neuropathies and for blood chemistry peculiarities. 2. In 19 cases some constitutional pathology was discovered, in 4 cases hearing was affected by inner ear changes. 3. Clinically patients behaviour was changed and with electroencephalgraphy an encephalopathy was found in 7 cases. 4. Electroencephalograms were in more than 50% of cases slightly abnormal. 5. A myastenic reaction, confirmed by electromyography, occurred in one case (but not in its sibling who had also a pigmentary retinopathy.) 6. In 14 cases electromyogram was showing a neurogenic damage. Motor nerve conduction speed was lowered in 2 cases, in 5 cases it was at the lower limit of normal. In 6 cases very long distal latence times were noted. In 2 cases action potential was shortened but this could not be considered as  a myopathy for certain. 7. In 6 cases a hyperlipoproteinaemia occurred.  In 2 cases a mild diabetes mellitus, in 7 cases uric acid level in serum was raised. The number of cases was too small to give a statistical importance to those findings. 8. Cerebrospinal fluid was found normal in all cases. 9. This study should lead to further investigations. In spite of the small number of cases one can presume that pigmentary retinopathy is not an independent defect but is a phenomenon of a polygenetic entity.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000175:diagnosis; D003930:Diabetic Retinopathy / Q000175:diagnosis; D004569:Electroencephalography; D004576:Electromyography; D005260:Female; D006309:Hearing; D006801:Humans; D006949:Hyperlipidemias / Q000175:diagnosis; D007223:Infant; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D012174:Retinitis Pigmentosa / Q000097:blood / Q000175:diagnosis*; D014527:Uric Acid / Q000097:blood
D014527:Uric Acid
Klinisch-neurologische und elektromyographische Untersuchungen bei Kranken mit anscheinend isolierter Retinopathia pigmentosa