Erdheim-Chester disease with orbital involvement: Case report and ophthalmic literature review.
Erdheim-Chester disease (ECD) is a rare xanthogranulomatous disease in which orbital involvement can have devastating outcomes. Through a case report and review of the ophthalmic literature, we explore orbital findings, disease progression, and treatment options. Cases of orbital involvement in Erdheim-Chester disease were identified in the ophthalmic literature with a PubMed query and review of cited references. A total of 14 publications reporting 19 separate cases that included ophthalmic examination data were identified. Patient ages ranged from 26-77 years with a mean age of 50 years. Seventy-four percent (14/19) were men. Vision progression to no light perception was found in 32% (6/19) of the patients. Reviewed cases reported a variety of medical and surgical treatment approaches, however, only 53% reported cases (10/19) demonstrated disease improvement or stabilization. Erdheim-Chester disease with orbital involvement is a devastating disease with a poor prognosis. Awareness of this entity by the ophthalmologist is important as orbital signs and symptoms may manifest early, and orbital biopsy is often crucial to the definitive diagnosis.
a Ruiz Department of Ophthalmology and Visual Science , The University of Texas Health Science Center at Houston , Houston , Texas , USA.
Helen
H
Merritt
a Ruiz Department of Ophthalmology and Visual Science , The University of Texas Health Science Center at Houston , Houston , Texas , USA.
Margaret L
ML
Pfeiffer
a Ruiz Department of Ophthalmology and Visual Science , The University of Texas Health Science Center at Houston , Houston , Texas , USA.|b Robert Cizik Eye Clinic , Houston , Texas , USA.
Karina
K
Richani
a Ruiz Department of Ophthalmology and Visual Science , The University of Texas Health Science Center at Houston , Houston , Texas , USA.|b Robert Cizik Eye Clinic , Houston , Texas , USA.
Margaret E
ME
Phillips
D000368:Aged; D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D031249:Erdheim-Chester Disease / Q000000981:diagnostic imaging* / Q000378:metabolism; D005094:Exophthalmos / Q000175:diagnosis; D005260:Female; D006099:Granuloma / Q000000981:diagnostic imaging* / Q000378:metabolism; D006801:Humans; D008279:Magnetic Resonance Imaging; D009916:Orbital Diseases / Q000000981:diagnostic imaging* / Q000378:metabolism; D035583:Rare Diseases; D014057:Tomography, X-Ray Computed; D014973:Xanthomatosis / Q000000981:diagnostic imaging* / Q000378:metabolism
D015415:Biomarkers
Erdheim-Chester; orbit; xanthogranulomatous