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.
2012
gaucher disease; retinal artery occlusion; tomography optical coherence
01 Pubblicazione su rivista::01a Articolo in rivista
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]
File allegati a questo prodotto
File Dimensione Formato  
Bruscolini_Graefes_2012.pdf

solo gestori archivio

Tipologia: Versione editoriale (versione pubblicata con il layout dell'editore)
Licenza: Tutti i diritti riservati (All rights reserved)
Dimensione 348.72 kB
Formato Adobe PDF
348.72 kB Adobe PDF   Contatta l'autore

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/877585
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 7
  • ???jsp.display-item.citation.isi??? 7
social impact