Erdheim-Chester Disease Presenting as Optic Neuritis: A Case Report and Review of the Literature.
Rare diseases like Erdheim-Chester can present as common conditions like optic neuritis, reminding clinicians to consider unusual diagnoses.
We report a case of Erdheim-Chester disease in a patient who presented to the ophthalmology clinic with unilateral vision loss, optic disc swelling, and cluster-type headaches. Diagnosis is challenging due to the highly variable presentations and rarity of the disease, as demonstrated in this case.
What the study was
- Study design
- Observational/unspecified
- Population
- patients, rare disease population
- Category
- Prevention
- Maturity
- Exploratory
- Journal
- Ophthalmic plastic and reconstructive surgery
Why it surfaced
Score 6/10 [UNDERSERVED_POPULATION]: Observational/unspecified (Journal Article) matched 'Rare diseases with high unmet need'. Components — novelty:1/3, relevance:2/3, design:1/2, population:2/2. Confidence: medium. Conservative scoring applied per v1.3 rubric.
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