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

Juan Carlos Mejía-Turizo; Sebastián Rojas-Múnera; Sebastián Reinaldo Orrego-Betancur; Carlos Mario Franco-Echeverri; Kevin Arango-Simoni

doi:10.17533/udea.iatreia.v30n3a05

Autores/as

Juan Carlos Mejía-Turizo Universidad Pontificia Bolivariana https://orcid.org/0000-0001-6649-411X
Sebastián Rojas-Múnera Universidad Pontificia Bolivariana https://orcid.org/0000-0002-9774-8124
Sebastián Reinaldo Orrego-Betancur Universidad Pontificia Bolivariana https://orcid.org/0000-0002-0288-153X
Carlos Mario Franco-Echeverri Hospital Pablo Tobón Uribe https://orcid.org/0000-0002-0487-0252
Kevin Arango-Simoni Universidad Pontificia Bolivariana https://orcid.org/0000-0001-6951-9765

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 Universidad Pontificia Bolivariana, Medellín, Colombia.

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, Universidad Pontificia Bolivariana

Oftalmólogo, Universidad Pontificia Bolivariana, Medellín, Colombia.

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