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eISSN: 2719-3209
ISSN: 0023-2157
Klinika Oczna / Acta Ophthalmologica Polonica
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SCImago Journal & Country Rank
3/2006
vol. 108
 
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abstract:
Review paper

Gaucher's disease – ocular manifestation and traetment

Erita Filipek
1
,
Bronisława Koraszewska-Matuszewska
1

  1. Z Katedry i Kliniki Okulistyki Dziecięcej Śląskiej Akademii Medycznej w Katowicach
Online publish date: 2006/09/15
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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.
keywords:

Gaucher’s disease, ocular symptoms, treatment of Gaucher’s disease

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