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June 1958

Atypical Retinitis Pigmentosa, Acanthrocytosis, and Heredodegenerative Neuromuscular Disease

Author Affiliations

Ann Arbor, Mich.
Instructor in Neurology (Dr. Jampel) and Associate Professor of Ophthalmology (Dr. Falls), University Hospital.

AMA Arch Ophthalmol. 1958;59(6):818-820. doi:10.1001/archopht.1958.00940070032002

The paper of Kornzweig and Bassen published in the A. M. A. Archives of Ophthalmology in August, 1957, "Retinitis Pigmentosa, Acanthrocytosis, and Heredodegenerative Neuromuscular Diseases," is of current interest. This intriguing combination of abnormalities has been reported to date in only three patients, the two pationts of Kornzweig and Bassen and the one of Singer, Fisher, and Perlstein. The patient of Singer et al., as known to Kornzweig and Bassen, exhibited the entire complex except for the retinitis pigmentosa. This patient, the son of first cousins, developed celiac disease at about the age of one year which was controlled by low-fat diet. At the age of 9 years acanthrocystosis was discovered, and at the age of 10 the insidious onset and slow progression of ataxia, intention tremor, athetoid movements, and impaired proprioceptive sense was noted.

It is the purpose of this paper to report a follow-up examination of the patient

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