"Cherry red spot" in a patient with Tay-Sachs disease: case report

Arquivos Brasileiros de Oftalmologia

Ricardo Evangelista Marrocos De Aragão²  Régia Maria Gondim Ramos¹  Felipe Bezerra Alves Pereira¹  Andreya Ferreira Rodrigues Bezerra¹  Daniel Nogueira Fernandes¹ 

[1] ,Universidade de Regensburg,Alemanha

关键词: Gangliosidosis;    GM2;    Tay-Sachs disease;    Nystagmus;    pathologic;    Macula lutea;    Mucolipidosis;    Human;    Infant;    Male;    Gangliosidoses GM2;    Doença de Tay-Sachs;    Nistagmo patológico;    Mácula lútea;    Mucolipidoses;    Humano;    Lactente;    Masculino;   

DOI  :  10.1590/S0004-27492009000400019

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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