[Retinal involvement in Gaucher's disease].
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.
Gonzalez Rodriguez
M J
MJ
Service d'Ophtalmologie, Hôpital Juan Canalejo, La Coruña, Espagne.
Pintado Conde
H
H
Lopez Nieto
C
C
Capdevila Puerta
A
A
Torres Carrete
J P
JP
D000328:Adult; D001853:Bone Marrow / Q000473:pathology / Q000648:ultrastructure; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D011379:Prognosis; D012164:Retinal Diseases / Q000209:etiology* / Q000473:pathology; D013154:Spleen / Q000473:pathology / Q000648:ultrastructure
La participation rétinienne dans la maladie de Gaucher.