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Tay–Sachs disease; Other names: GM2 gangliosidosis, hexosaminidase A deficiency [1] Cherry-red spot as seen in the retina in Tay–Sachs disease. The fovea's center appears bright red because it is surrounded by a whiter than usual area. Specialty: Medical genetics: Symptoms: Initially: Decreased ability to turn over, sit, or crawl [1]
The sign was first described by Warren Tay, founding member of the British Ophthalmological Society, in 1881, with reference to a patient with Tay–Sachs disease. The cherry red spot is seen in central retinal artery occlusion, appearing several hours after the blockage of the retinal artery occurs. [ 4 ]
Tay–Sachs disease is a rare autosomal recessive genetic disorder that causes a progressive deterioration of nerve cells and of mental and physical abilities that begins around six months of age and usually results in death by the age of four. It is the most common of the GM2 gangliosidoses.
In 1881, Waren (often misspelt Warren) Tay first described the red spot on the retina of the eye that is present in Tay–Sachs disease. [1] He reported this condition in the Volume I edition of the Ophthalmological Society, an organization in which he was a founding member. Here he described the symptoms in a child who also had neurological ...
This cherry-red spot is the same finding that Warren Tay first reported in 1881, when he identified a case of Tay–Sachs disease, and it has the same etiology. [5] The prognosis for AB variant is the same as for infantile Tay–Sachs disease. Children with AB variant die in infancy or early childhood. [citation needed]
The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive .
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The condition known as Tay–Sachs disease is named after Sachs along with English ophthalmologist Waren Tay. Tay first described the red spot on the retina of the eye in 1881, while Sachs provided a more comprehensive description of the disease, and in 1887 noted its higher occurrence in Ashkenazi Jews from Eastern Europe. [2] [3]