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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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
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spelling doaj-43412a89d52a4aa6b7a3f7dd25c1b2262020-11-25T02:41:19ZspaUniversidad de AntioquiaIatreia0121-07932011-79652017-07-0130329730810.17533/udea.iatreia.v30n3a05Ocular manifestations of Gaucher disease: case report and literature reviewMejía-Turizo, Juan Carlos0Rojas-Múnera, Sebastián1Orrego-Betancur, Sebastián Reinaldo2Franco-Echeverri, Carlos Mario3Arango-Simoni, Kevin4Universidad Pontificia Bolivariana. Medellín, ColombiaUniversidad Pontificia Bolivariana. Medellín, ColombiaUniversidad Pontificia Bolivariana. Medellín, ColombiaUniversidad Pontificia Bolivariana. Medellín, ColombiaUniversidad Pontificia Bolivariana. Medellín, ColombiaWe 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.http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/26728/20785179Fluorescein AngiographyGaucher DiseaseMutationOcular ManifestationOphthalmologyRetinal DiseaseTomography Optical Coherence
collection DOAJ
language Spanish
format Article
sources DOAJ
author Mejía-Turizo, Juan Carlos
Rojas-Múnera, Sebastián
Orrego-Betancur, Sebastián Reinaldo
Franco-Echeverri, Carlos Mario
Arango-Simoni, Kevin
spellingShingle Mejía-Turizo, Juan Carlos
Rojas-Múnera, Sebastián
Orrego-Betancur, Sebastián Reinaldo
Franco-Echeverri, Carlos Mario
Arango-Simoni, Kevin
Ocular manifestations of Gaucher disease: case report and literature review
Iatreia
Fluorescein Angiography
Gaucher Disease
Mutation
Ocular Manifestation
Ophthalmology
Retinal Disease
Tomography Optical Coherence
author_facet Mejía-Turizo, Juan Carlos
Rojas-Múnera, Sebastián
Orrego-Betancur, Sebastián Reinaldo
Franco-Echeverri, Carlos Mario
Arango-Simoni, Kevin
author_sort Mejía-Turizo, Juan Carlos
title Ocular manifestations of Gaucher disease: case report and literature review
title_short Ocular manifestations of Gaucher disease: case report and literature review
title_full Ocular manifestations of Gaucher disease: case report and literature review
title_fullStr Ocular manifestations of Gaucher disease: case report and literature review
title_full_unstemmed Ocular manifestations of Gaucher disease: case report and literature review
title_sort ocular manifestations of gaucher disease: case report and literature review
publisher Universidad de Antioquia
series Iatreia
issn 0121-0793
2011-7965
publishDate 2017-07-01
description 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.
topic Fluorescein Angiography
Gaucher Disease
Mutation
Ocular Manifestation
Ophthalmology
Retinal Disease
Tomography Optical Coherence
url http://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/26728/20785179
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AT francoecheverricarlosmario ocularmanifestationsofgaucherdiseasecasereportandliteraturereview
AT arangosimonikevin ocularmanifestationsofgaucherdiseasecasereportandliteraturereview
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