Ocular manifestations of Gaucher disease: case report and literature review

Ocular manifestations of Gaucher disease: case report and literature review

We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported...

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Bibliographic Details
Main Authors: Mejía-Turizo, Juan Carlos, Rojas-Múnera, Sebastián, Orrego-Betancur, Sebastián Reinaldo, Franco-Echeverri, Carlos Mario, Arango-Simoni, Kevin
Format: Article
Language:Spanish
Published: Universidad de Antioquia 2017-07-01
Series:Iatreia
Subjects:
Fluorescein Angiography
Gaucher Disease
Mutation
Ocular Manifestation
Ophthalmology
Retinal Disease
Tomography Optical Coherence
Online Access:http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/26728/20785179
Description
Summary:We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.
ISSN:0121-0793
2011-7965

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