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

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

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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, intra-trac3 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 ornament ice cube molds life.

Keywords: Histiocytosis, Vemurafenib, Orbital, Chorioretinal, Xanthomatous, Lipogranulomatous, BRAF.