Arquivos Brasileiros de Oftalmologia · 2009 · 14 citations · 7 references
MedicineNeurologyOphthalmologyNeuro-ophthalmologyNeuropathologyOcular DiseaseGenetic DisordersNeuro-ophthalmic DisordersPediatric Eye DiseasePediatric Retinal DisordersRetinal DiseaseRetinal DisordersAutosomal Recessive InheritanceHereditary Neurometabolic DisordersNeurological FunctionNeurological PathogenesisRetinal Ganglion Cell DisordersSphingolipid Metabolism DefectsTay-sachs Disease
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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Neuro-ophthalmology of late-onset Tay–Sachs disease (LOTS)
Janet C. Rucker, Barbara E. Shapiro, Yutong Han et al. · Neurology · 2004 · 70 citations
Medicine, Neurology, Ophthalmology +17
Hiromi Akeboshi, Yasunori Chiba, Yoshiko Kasahara et al. · Applied and Environmental Microbiology · 2007 · 60 citations · Full text