Pigmentary degeneration of the retina in heredodegenerative neurological diseases

Frequency of pigmentary degeneration of the retina (PDR) among patients with degenerative and heredodegenerative neurological diseases (HDNDs) was estimated based on the hospital statistics. PDR was detected in 3% of 176 inpatients with HDNDs by careful ophthalmologic examination. On the other hand, out of 30 consecutive cases of PDR seen in our Department of Neurology, 15 patients were associated with some form of HDNDs. Atypical PDR were more frequently associated with HDNDs than typical PDR. Among neurological manifestations in those 15 cases of PDR associated with HDNDs, mental deficiency, hearing disturbance, spasticity, progressive ophthalmoplegia and ataxia were most frequently encountered. Four cases with unusual symptomatology were presented. Clinical analysis of cases of PDR associated with HDNDs in the present series as well as in the relevant literature revealed an extreme variety of clinical manifestations and underlying metabolic disorders, suggesting a possible participation of multiple factors in the pathogenesis of PDR. Importance of careful ophthalmologic examination in HDNDs was stressed from the prognostic point of view.