Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema

Autores/as

DOI:

https://doi.org/10.17533/udea.iatreia.v30n3a05

Palabras clave:

Angiografía con Fluoresceína, Enfermedad de Gaucher, Enfermedades de la Retina, Mutación, Manifestaciones Oculares, Oftalmología, Tomografía de Coherencia Óptica

Resumen


Se informa el caso de una paciente con enfermedad de Gaucher (EG) tipo 3b con mutación homocigota en el gen GBA (c.1448T>C p.L483P) (L444P). Se describen los hallazgos oculares característicos de esta mutación, que incluyen condensaciones vítreas y edema macular. Hasta donde sabemos, es el primer caso informado en Colombia con estas características. Se presenta además una revisión sobre las manifestaciones oculares de esta enfermedad. 

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Biografía del autor/a

Juan Carlos Mejía-Turizo, Universidad Pontificia Bolivariana

Residente de Oftalmologia.

Sebastián Rojas-Múnera, Universidad Pontificia Bolivariana

Oftalmólogo de la Universidad Pontificia Bolivariana

Sebastián Reinaldo Orrego-Betancur, Universidad Pontificia Bolivariana

Residente de Oftalmologia.

Carlos Mario Franco-Echeverri, Hospital Pablo Tobón Uribe

Oftalmólogo, Universidad Pontificia Bolivariana, Medellín, Colombia.

Kevin Arango-Simoni, Hospital Pablo Tobón Uribe. Universidad Pontificia Bolivariana. Fundación Oftalmológica Nacional

Oftalmólogo, Universidad Pontificia Bolivariana, Medellín, Colombia.

Citas

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Publicado

2017-07-04

Cómo citar

1.
Mejía-Turizo JC, Rojas-Múnera S, Orrego-Betancur SR, Franco-Echeverri CM, Arango-Simoni K. Manifestaciones oculares de la enfermedad de Gaucher: presentación de un caso y revisión del tema. Iatreia [Internet]. 4 de julio de 2017 [citado 5 de diciembre de 2021];30(3):297-308. Disponible en: https://revistas.udea.edu.co/index.php/iatreia/article/view/26728

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