title: 'Cherry red spot' in a patient with Tay-Sachs disease: case report.
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.
authors.affiliation: Universidade de Regensburg, Alemanha.
authors.forename: Ricardo Evangelista Marrocos de
authors.initials: RE
authors.lastname: Aragão
authors.forename: Régia Maria Gondim
authors.initials: RM
authors.lastname: Ramos
authors.forename: Felipe Bezerra Alves
authors.initials: FB
authors.lastname: Pereira
authors.forename: Andreya Ferreira Rodrigues
authors.initials: AF
authors.lastname: Bezerra
authors.forename: Daniel Nogueira
authors.initials: DN
authors.lastname: Fernandes
mesh_terms: D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D009887:Ophthalmoscopy; D012164:Retinal Diseases / Q000175:diagnosis* / Q000209:etiology; D013661:Tay-Sachs Disease / Q000150:complications / Q000175:diagnosis*