Literature DB >> 1640076

[Retinal involvement in Gaucher's disease].

M J Gonzalez Rodriguez1, H Pintado Conde, C Lopez Nieto, A Capdevila Puerta, J P Torres Carrete.   

Abstract

Gaucher's disease, a storage disease, causes storage of the sphingolipid glucosylceramide in the reticulo endothelial system. The manifestations of such deposits within the retina consist of the appearance of numerous whitish spots, such as preretinian infiltrates. Several authors have noticed the higher frequency of appearance of such spots in splenectomized patients, with marked extrasplenic infiltration. In our case, the systemic infiltration was massive at the time of the ophthalmoscopic examination, as confirmed by the bone-marrow biopsy and computerized axial tomography study, in spite of the fact that the spleen had not been removed. Our hypothesis is that the appearance of the whitish preretinian deposits in the course of the disease is connected with the degree of systemic infiltration, stressing the importance of examination of the eye fundus in Gaucher's disease.

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Year:  1992        PMID: 1640076

Source DB:  PubMed          Journal:  J Fr Ophtalmol        ISSN: 0181-5512            Impact factor:   0.818


  2 in total

1.  Photo Essay: Retinal Changes in Type 3 Gaucher Disease.

Authors:  Shweta Anand; Desmond Kidd; Derralynn Hughes
Journal:  Neuroophthalmology       Date:  2018-02-05

2.  Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Authors:  M Elleder
Journal:  J Inherit Metab Dis       Date:  2006-11-02       Impact factor: 4.982

  2 in total

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