Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib

PURPOSE: We report a patient with severe multi-organ dysfunction of unknown origin who presented with bilateral orbital and chorioretinal manifestations that led to the diagnosis of Erdheim-Chester Disease (ECD). OBSERVATIONS: ECD is a rare, histiocytic, proliferative disorder characterized by multi...

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Detalles Bibliográficos
Autores principales: Huang, Laura C., Topping, Katie L., Gratzinger, Dita, Brown, Ryanne A., Martin, Beth A., Silva, Ruwan A., Kossler, Andrea L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6076364/
https://www.ncbi.nlm.nih.gov/pubmed/30094395
http://dx.doi.org/10.1016/j.ajoc.2018.07.005
Descripción
Sumario:PURPOSE: We report a patient with severe multi-organ dysfunction of unknown origin who presented with bilateral orbital and chorioretinal manifestations that led to the diagnosis of Erdheim-Chester Disease (ECD). OBSERVATIONS: ECD is a rare, histiocytic, proliferative disorder characterized by multi-systemic organ involvement that has historically lacked effective therapy. Our patient underwent genetic testing that was positive for the BRAF V600E mutation; therefore, the patient was treated with vemurafenib. CONCLUSIONS AND IMPORTANCE: This case demonstrates the rare orbital and intraocular manifestations of ECD and the unfortunate impact of a delayed diagnosis, the importance of early gene therapy testing for management decisions, and the utilization of targeted directed therapy to improve visual outcomes and quality of life.