1. Ocular manifestations of Gaucher disease: case report and literature review
- Author
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Mejía-Turizo, Juan Carlos, Rojas-Múnera, Sebastián, Orrego-Betancur, Sebastián Reinaldo, Franco-Echeverri, Carlos Mario, and Arango-Simoni, Kevin
- Subjects
Fluorescein Angiography ,Gaucher Disease ,Mutation ,Ocular Manifestation ,Ophthalmology ,Retinal Disease ,Tomography Optical Coherence ,Medicine ,Medicine (General) ,R5-920 - Abstract
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.
- Published
- 2017
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