Ophthalmological findings in Gaucher disease.

Abstract

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by mutations in the gene GBA1, which encodes the lysosomal protein glucocerebrosidase. Patients with Gaucher disease generally have a variety of clinical manifestations ranging from visceral to neurological involvement and some develop ocular involvement. The most commonly affected organs include the spleen, liver, and bone. Moreover, patients often have hepatosplenomegaly, thrombocytopenia, anemia, and bone involvement related to deficient glucocerebrosidase and the subsequent accumulation of glucosylceramide and glucosylsphingosine in cells. A subset of patients develops neurological manifestations, including seizures, myoclonic epilepsy, and progressive neurodegeneration. Eye involvement tends to be less common and presents with diverse clinical findings. These rare and variable ocular manifestations, involving the vitreous, retina, cornea, uvea, conjunctiva and eye movements, can pose a diagnostic challenge for clinicians, especially those not familiar with the disorder. In this review, we explore the different ophthalmologic findings reported in patients with Gaucher disease, aiming to facilitate diagnosis and expedite treatment for patients presenting with ocular manifestations of this rare disorder.

• Authors: Areian Eghbali, Shahzeb Hassan, Gurpreet Seehra, Edmond FitzGibbon, Ellen Sidransky
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 127 Issue 1 Pg. 23-27 (05 2019) ISSN: 1096-7206 [Electronic] United States
• PMID: 31047801 (Publication Type: Journal Article, Research Support, N.I.H., Intramural, Review, Video-Audio Media)
• Copyright: Published by Elsevier Inc.

Topics

• Corneal Opacity (etiology)
• Eye (physiopathology)
• Eye Diseases (etiology)
• Eye Movements
• Gaucher Disease (complications, diagnosis)
• Humans
• Mutation