Petek Bradley, Jones Robin L
University of Washington Medical Center, Seattle, USA.
Seattle Cancer Care Alliance and Fred Hutchinson Cancer Research Center, Seattle, USA.
GMS Ophthalmol Cases. 2014 Jul 8;4:Doc04. doi: 10.3205/oc000017. eCollection 2014.
Blue rubber bleb nevus syndrome is a rare vascular disease most commonly associated with venous malformations of the skin and the gastrointestinal tract. Few ophthalmic cases have been reported to date, and no clear treatment regimen exists. We describe the case of a 59-year-old man, along with a review of literature, to help in the future diagnosis and treatment of patients with the disease.
This paper is an observational case report and a review of medical literature on the syndrome from 1981 to present.
Our patient developed a dural arteriovenous fistula in his orbit after being diagnosed with a familial form of blue rubber bleb nevus syndrome. Multiple endovascular embolization procedures eliminated all of his ocular symptoms. Surgical procedures were also successful in other cases reviewed, and similar symptoms were seen across cases.
Comparing our case with other ophthalamic reports in literature, surgical intervention appears to be a plausible long-term treatment for optic manifestations of blue rubber bleb nevus syndrome. Systemic therapies, including sirolimus and corticosteroids, have had limited success in the long-term treatment of other forms of blue rubber bleb nevus syndrome, and therefore are not recommended in the treatment of ocular symptoms.
