In a previous report1 we presented the case of a 17-year-old girl with an atypical type of retinitis pigmentosa, progressive neuropathy, and a hitherto undescribed abnormality of the red blood cells.
The parents of the girl were first cousins, and, as far as could be determined, normal in all respects. It was felt that the symptoms and signs in this patient represented a clinical entity of an hereditary nature, since the red cell abnormality was also present in a younger brother.
Shortly afterward, Singer et al.2 reported a remarkably similar case and gave the descriptive term of acanthrocytes* to the abnormal red cells. The parents in this case were second cousins and also apparently normal in all respects.
In both cases there was an early history of celiac disease and the neurological changes were similar. In Singer's case, however, there were no retinal changes.
The patient to be
KORNZWEIG AL, BASSEN FA. Retinitis Pigmentosa, Acanthrocytosis, and Heredodegenerative Neuromuscular Disease. AMA Arch Ophthalmol. 1957;58(2):183-187. doi:10.1001/archopht.1957.00940010195004