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Tapetoretinal Degenerations and Disorders of lipid Metabolism. Part I: Clinical, Genetic, Pathological, and Therapeutic Aspects

Published online by Cambridge University Press:  01 August 2014

S. Merin
S. Merin*
Affiliation:
Department of Ophthalmology, Hadassah University Hospital, Jerusalem, Israel
*
Department of Ophthalmology, Hadassah University Hospital, P.O. Box 499, Jerusalem, Israel

Abstract

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The clinical findings in a group of syndromes in which tapetoretinal degenerations are associated with systemic lipid disorders are described. This group includes abetalipoproteinemia (the syndrome of Bassen and Kornzweig), Refsum's syndrome, Neuronal Ceroid Lipofuscinosis, and Cockayne's syndrome. AII four are transmitted by single autosomal recessive genes. The pathological findings are discussed. If diagnosed early enough, abetalipoproteinemia should be treated by administration of vitamin A, and Refsum's syndrome by restriction of intake of phytanic acid and phytol.

Type
1. Tapetoretinal Degenerations and CNS Genetic Disease
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 25 - 31
Copyright
Copyright © The International Society for Twin Studies 1974

References

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