Tay-Sachs Disease

Tay-Sachs Disease

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Credit: 'RALPH C. EAGLE, JR.'/SCIENCE PHOTO LIBRARY

Caption: Tay-Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis, Hexosaminidase A deficiency or Sphingolipidosis) is a genetic disorder, fatal in its most common variant known as Infantile Tay-Sachs disease. All patients with Tay-Sachs disease have a ''cherry-red'' spot, easily observable by a physician using an ophthalmoscope, in the back of their eyes.

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Keywords: autosomal recessive disorder, cherry red spot, disease, disorder, eye, genetic disorder, gm2, gm2 gangliosidosis, hexosaminidase a deficiency, lipid storage disorder, lysosomal storage disease, macula, medical, metabolic disorder, neurology, ocular, ophthalmology, opthalmology, pathology, rare disease, red spot, retina, science, sphingolipidosis, tay-sachs disease, tsd

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