Title |
"Cherry red spot" in a patient with Tay-Sachs disease: case report
|
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Published in |
Arquivos Brasileiros de Oftalmologia, August 2009
|
DOI | 10.1590/s0004-27492009000400019 |
Pubmed ID | |
Authors |
Ricardo Evangelista Marrocos de Aragão, Régia Maria Gondim Ramos, Felipe Bezerra Alves Pereira, Andreya Ferreira Rodrigues Bezerra, Daniel Nogueira Fernandes |
Abstract |
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzyme hexosaminidase A deficiency that leads to an accumulation of GM2 in neurocytes which results in progressive loss of neurological function. The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called 'cherry red spot' is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion. This case reports a child with Tay-Sachs disease in a family with four previous similar deaths without diagnostic. |
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