Abstract

MEJIA-TURIZO, Juan Carlos et al. Ocular manifestations of Gaucher disease: case report and literature review. Iatreia [online]. 2017, vol.30, n.3, pp.297-308. ISSN 0121-0793.  https://doi.org/10.17533/udea.iatreia.v30n3a05.

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.

Keywords : Fluorescein Angiography; Gaucher Disease; Mutation; Ocular Manifestation; Ophthalmology; Retinal Disease; Tomography Optical Coherence.

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