Abstract
3/2006
vol. 108
Review paper
Gaucher's disease – ocular manifestation and traetment
- Z Katedry i Kliniki Okulistyki Dziecięcej Śląskiej Akademii Medycznej w Katowicach
Online publish date: 2006/09/15
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.
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.
Keywords
Gaucher’s disease, ocular symptoms, treatment of Gaucher’s disease
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