Dataset Information
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.
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ABSTRACT: 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.
SUBMITTER: Huang LC
PROVIDER: S-EPMC6076364 | biostudies-literature | 2018 Sep
REPOSITORIES: biostudies-literature
Publications
Orbital and chorioretinal manifestations of Erdheim-Chester disease treated with vemurafenib.
American journal of ophthalmology case reports 20180725
<h4>Purpose</h4>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).<h4>Observations</h4>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 <i>BRAF</i> V600E mutation; therefore, the pati ...[more]