Glossary

Tay-Sachs disease

Also known as Gangliosidosis Type II, is a hereditary (autosomal recessive) disorder owing to a genetic defect on chromosome 15, characterized by a lack of hexosaminidase A which is an enzyme involved in nerve tissue metabolism. The disease is found to be common amongst the Jewish Ashkenazi population. Symptoms vary between its infantile and adult forms however it does have retinal and optic nerve involvement. A prominent ‘cherry-red spot’ is generally found on the retinal scan as a result of lipid storage dysfunction in the retinal ganglion cells and the disorder can cause blindness, deafness, seizures and loss of muscle function.

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