Tay-Sachs' Retina
- 1 September 1971
- journal article
- research article
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 86 (3) , 352-356
- https://doi.org/10.1001/archopht.1971.01000010354018
Abstract
Acetyl hexosaminidase A was absent in the retina and optic nerve of an infant with Tay-Sachs disease. Similar deficiencies of acetyl hexosaminidase A were found by starch gel electrophoresis and colorimetric determinations in the spleen, liver, and intestine of this infant. Total acetyl hexosaminidase, B-glucosidase, and B-galactosidase activities did not differ significantly in Tay-Sachs and control tissues. The chemical differential diagnosis of gangliosidosis and other lipidoses with cherry red spot lesions of the retina is presented.Keywords
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