Rev Bras Oftalmol.2023;82:e0017
Tay-Sachs disease: a case report
Pérola Grupenmacher , Léa Grupenmacher , Anah Julia Bento Andreoli , Isadora , Larissa , Rafael Victor
DOI: 10.37039/1982.8551.20230017
ABSTRACT
Tay-Sachs Disease is an autosomal recessive neurodegenerative disorder, which involves the metabolism of lipids, leading to the accumulation of gangliosides in the tissues, due to the deficiency of the enzyme Hexosaminidase A. This progressive deposit results in loss of neurological function and, when it affects macula ganglion cells, it causes the typical disease finding, the “cherry red spot”. The pathology is diagnosed through the levels of Hex A and total Hexosaminidase in the serum, in addition to the analysis of the DNA of the HEXA gene. This case reports a child with Tay-Sachs disease with a suspected diagnosis was through ophthalmologic findings.
Tay-Sachs disease: a case report
