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.
Cotlier E. Tay-Sachs' RetinaDeficiency of Acetyl Hexosaminidase A. Arch Ophthalmol. 1971;86(3):352-356. doi:10.1001/archopht.1971.01000010354018