Guide To The Symptoms Of Tay-Sachs Disease

Cherry Red Spots In The Eyes

The defining hallmark of Tay-Sachs disease is the 'cherry red spot.' This spot distinguishes the disease from many other genetic developmental disorders, though it's not exclusive to Tay-Sachs disease. Other types of hexosaminidase A deficiency may cause red spots as well, but not as commonly. Red spots may also develop in patients with certain other neurometabolic conditions or central retinal artery occlusion. The redness is caused by the accumulation of lipid in the retinal ganglion cells. This spot may appear for the first time a few hours after the retinal artery is blocked. It becomes visible because the macula continues to receive blood supply from alternative arteries, but the retina is pale because it has no blood flow, leading to permanent retinal damage and vision loss. Blindness typically sets in when a child is between eight and ten months old.

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