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More about Tay-Sachs Disease:
Definition Causes and symptoms Diagnosis Treatment Prognosis Prevention Resources |
Examination of the eyes of a child with Tay-Sachs disease will reveal a characteristic cherry-red spot at the back of the eye (in an area called the retina). Tests to determine the presence and quantity of hexosaminidase A can be performed on the blood, specially treated skin cells, or white blood cells. A carrier will have about half of the normal level of hexosaminidase A present, while a patient with the disease will have none.
— Laith Farid Gulli, MD
