Gaucher disease (GD) is a rare familial autosomal recessive disorder of lipid metabolism, resulting in an accumulation of abnormal glucocerebrosides in the reticulo-endothelial system. Patients with GD may present with hepatosplenomegaly, anemia, thrombocytopenia, and destructive bone disease. An enzyme replacement therapy with intravenous infusions of glycosylceramidase has been successfully proposed for treating the visceralmanifestations. Gaucher disease can be divided into three subtypes: non-neuronopathic (type 1) which is the most common, acute neuronopathic (type 2), and subacute neuronopathic (type 3). Several studies have reported ocular manifestations such as strabismus, conjunctival pterygia, corneal opacities, vitreous opacities and retinal involvement. To our knowledge, this is the first reported case of Gaucher disease complicated by branch retinal artery occlusion.
A branch retinal artery occlusion in a patient with Gaucher disease / Bruscolini, Alice; Pia Pirraglia, Maria; Restivo, Lucia; Spinucci, Giovanni; Abbouda, Alessandro. - In: GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY. - ISSN 0721-832X. - STAMPA. - 250:3(2012), pp. 441-444. [10.1007/s00417-011-1745-2]
A branch retinal artery occlusion in a patient with Gaucher disease
BRUSCOLINI, ALICE;RESTIVO, LUCIA;SPINUCCI, GIOVANNI;ABBOUDA, ALESSANDRO
2012
Abstract
Gaucher disease (GD) is a rare familial autosomal recessive disorder of lipid metabolism, resulting in an accumulation of abnormal glucocerebrosides in the reticulo-endothelial system. Patients with GD may present with hepatosplenomegaly, anemia, thrombocytopenia, and destructive bone disease. An enzyme replacement therapy with intravenous infusions of glycosylceramidase has been successfully proposed for treating the visceralmanifestations. Gaucher disease can be divided into three subtypes: non-neuronopathic (type 1) which is the most common, acute neuronopathic (type 2), and subacute neuronopathic (type 3). Several studies have reported ocular manifestations such as strabismus, conjunctival pterygia, corneal opacities, vitreous opacities and retinal involvement. To our knowledge, this is the first reported case of Gaucher disease complicated by branch retinal artery occlusion.File | Dimensione | Formato | |
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