Erdheim-Chester Disease Presenting as Optic Neuritis: A Case Report and Review of the Literature.

Ophthalmic Plast Reconstr SurgJul 23, 2026 (epub)
Case ReportOphthalmologyPathology (Anatomic & Clinical)

Raheej Shamim Khan, Paul Cannon, Amira Stylianides

✦ AI-curated · Sources linked

Case in brief

A patient presented to ophthalmology with unilateral vision loss, optic disc swelling, and cluster-type headaches. Evaluation led to a diagnosis of Erdheim-Chester disease, a non-Langerhans cell histiocytosis. The patient had no systemic involvement and tested negative for the BRAF V600 mutation. The report highlights the diagnostic challenge posed by the disease’s variable presentation and rarity; the abstract does not describe treatment or clinical resolution.

What made this case unusual

The disease presented with optic neuritis-like ophthalmic findings despite no systemic involvement, and the patient was negative for the BRAF V600 mutation.

Diagnostic / clinical pearl

Erdheim-Chester disease can present with unilateral vision loss and optic disc swelling; consider it when evaluating atypical ophthalmic presentations, even without systemic involvement.

Source

PubMed · PMID 42489293

Published in Ophthalmic Plast Reconstr Surg. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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