Choroba Gauchera – objawy i leczenie

Gaucher’s disease is the most common lysosomal storage disorder due to a deficiency of glukocerebrosidase activity. It leads

to an accumulation of glukosylceramide within the cells of the the reticuloendothelial system. Gaucher’s disease is divided into

three subtypes based on clinical symptoms. Type I – nonneuronopathic – chronically progressive in adulthood, type II – acute

neuronopathic – infantile form lead up to the difficult damage nervous system, and type III – juvenile form – subacute neuronopathic. The aim of this paper is to present the typical ocular symptoms which occured in the disease. Gaucher’s disease is the

lysosomal storage disorder which is treated by enzyme replacement therapy.