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


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

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Publications

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

Huang Laura C LC   Topping Katie L KL   Gratzinger Dita D   Brown Ryanne A RA   Martin Beth A BA   Silva Ruwan A RA   Kossler Andrea L AL  

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]

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