We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
"Cherry red spot" in a patient with Tay-Sachs disease: case report.
- Authors
de Aragão, Ricardo Evangelista Marrocos; Ramos, Régia Maria Gondim; Pereira, Felipe Bezerra Alves; Bezerra, Andreya Ferreira Rodrigues; Fernandes, Daniel Nogueira
- Abstract
Tay-Sachs disease is an autosomal recessive disorder of sphingolipid metabolism, caused by enzime 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.
- Subjects
TAY-Sachs disease; GANGLIOSIDOSES; BLOOD vessels; OPTIC nerve cytology; RETINAL ganglion cells; RETINA cytology
- Publication
Arquivos Brasileiros de Oftalmologia, 2009, Vol 72, Issue 4, p537
- ISSN
0004-2749
- Publication type
Case Study