title: Multiple orbital venous malformations presenting with enophthalmos in a patient with presumed blue rubber bleb nevus syndrome.
abstract: A 27-year-old white woman presented with enophthalmos in the right eye. The visual acuity was 20/20 in both eyes. External examination showed 7 mm of enophthalmos of the right eye with deepened superior palpebral sulcus compared with the left eye. After Valsalva maneuver, the right eye became 4-mm exophthalmic compared with the left eye. Extraocular movements were full. There was no palpable orbital mass or diplopia. MRI showed diffuse enhancing intraconal orbital and nasopharyngeal masses consistent with venous malformations in the right orbit. Systemic evaluation revealed bluish vascular lesions on the hard and soft palates, and the pretibial area of her right leg. These findings were suggestive of blue rubber bleb nevus syndrome. The patient was observed, and her clinical findings remained stable for 12 months. Enophthalmos can be a rare initial presentation of blue rubber bleb nevus syndrome and patients with ophthalmic involvement should undergo systemic evaluation including gastrointestinal, dermatologic, and otorhinolaryngologic examination.
authors.affiliation: Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Turkey. sbtuncer@yahoo.com
authors.forename: Samuray
authors.initials: S
authors.lastname: Tuncer
authors.forename: Gonul
authors.initials: G
authors.lastname: Peksayar
authors.forename: Esra Guney
authors.initials: EG
authors.lastname: Tefekli
authors.forename: Ozen
authors.initials: O
authors.lastname: Ayranci
authors.forename: Hakan
authors.initials: H
authors.lastname: Demirci
mesh_terms: D000328:Adult; D015841:Enophthalmos / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D018329:Nevus, Blue / Q000175:diagnosis*; D009915:Orbit / Q000098:blood supply*; D012878:Skin Neoplasms / Q000175:diagnosis*; D013577:Syndrome; D054079:Vascular Malformations / Q000175:diagnosis*; D014680:Veins