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Tay-Sachs, Canavan, Sandhoff, GM1 and related diseases

Cherry-red spot

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Term Definition
Cherry-red spot
The term ‘cherry red spot’ describes the appearance of the retina when viewed by an eye specialist that is associated with metabolic neurological disorders like Tay-Sachs, Sandhoff, GM-1, Niemann-Pick, MPS and other similar disorders.
Warren Tay described the cherry red spot in Symmetrical changes in the region of the yellow spot in each eye of an infant, published in Transactions of Ophthalmology Society UK in 1881:
…in the region of the yellow spot in each eye there was a conspicuous, tolerably defined, large white patch, more or less circular in outline, and showing at its centre a brownish-red, fairly circular spot, contrasting strongly wit the white patch surrounding it.
 
Disappearance of the cherry-red spot is not indictiative of disease lessening.
 
Endoplasmic reticulum and Enzyme definitions are swapped. 
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