Case Report: Periocular Steroid Injection Combined Vemifuranib Therapy In The Long-term Management of Orbital Involvement of Erdheim-Chester Disease.

Abstract Purpose: To report a rare case of vision loss from Erdheim-Chester Disease (ECD) and long term, follow up, management and results. Case Report: A 62-year-old woman presented with bilateral exophthalmos and deterioration in visual acuity of both eyes. Magnetic resonance imaging studies revealed bilateral intraconal orbital tumors. She was diagnosed optic neuropathy in both eyes. The patient was treated with pegylated interferon and systemic pulse steroid. However, recurrences were common. Subsequently, the patient underwent regular corticosteroid injection directly into the retro-orbital region of both eyes monthly, which led to intermittent improvement of vision. At the 8th month of visual impairment, Vemurafenib was initiated. Results: The visual acuity and visual field scores were stable for 6 years during the follow-up. No major complication was observed. Conclusion: Combined vemurafenib and perioculer steroid injection is a well tolerated therapy with less systemic adverse effects which may benefit patients with orbital involvement of ECD. Key words: Erdheim–Chester disease; compressive optic neuropathy; vemurafenib; Optical coherence tomography; Optical coherence tomography angiography.

Publication History

Received: 14 March 2024

Accepted after revision: 28 August 2024

Accepted Manuscript online:
29 August 2024