blue rubber bleb nevus syndrome ( brbns ) is a rare disorder characterized by venous malformations of the skin , gastrointestinal ( gi ) tract , and less commonly of other tissues in the body . we present the case of a 59-year - old man and a review of current literature to illuminate the diversity of ophthalmic symptoms , as well as potential treatment options for patients with blue rubber bleb nevus syndrome . the patient was initially diagnosed with a familial case of blue rubber bleb nevus syndrome as a child after developing multiple cutaneous lesions on his back , chest , face , and extremities . no major complications from the disease were apparent until july , 2012 ( apart from mild anemia ) , when he presented to his local hospital with loss of vision in his right eye , and chronic pain in the left eye . magnetic resonance angiography ( mra ) revealed a dural arteriovenous fistula ( davf ) in the left skull base ( figure 1 ( fig . 1 ) ) .   a total of three endovascular embolization procedures were used to treat the patient s ophthalmic symptoms . partial occlusion of the davf after the first procedure failed to alleviate all of his optic symptoms , as the patient developed morning blurriness and diplopia . he appears to have slight pallor of the optic nerves , as well as imbalance and vertigo , but his overall health has greatly improved . approximately 200 reports of the syndrome have been documented to date . although some forms appear to have an autosomal dominant inheritance pattern linked to chromosome 9p , the majority of cases are sporadic . patients often present with small , compressible lesions of the skin and chronic anemia from gastrointestinal bleeding . diagnosis of the disease usually occurs from these common presentations as well as histological analysis . radical resection has had positive results in patients with gastrointestinal hemorrhage , and laser therapy has shown promise for cutaneous lesions , . we present here some of the few cases of ophthalmic symptoms associated with this disorder ( table 1 ( tab . 1 ) ) . past reports of orbital involvement of blue rubber bleb nevus syndrome have presented with a myriad of symptoms including : proptosis , enophthalmos , ptosis , vision loss , imbalance , occipital headaches , ecchymosis , and intraocular pressure . ophthalmic symptoms can be chronic or acute in nature , as with the case of a sudden intraorbital hemorrhage . cutaneous lesions were also present in most patients ( 10/11 cases ) , and gastrointestinal lesions in a subset of reports ( 5/11 cases ) . it can be difficult to differentiate brbns from mafucci s syndrome , klippel - trenaunay syndrome , diffuse neonatal angiomatosis , and rendu - osler - weber syndrome . based on our analysis , the common orbital symptoms of blue rubber bleb nevus syndrome may include : the presence of cutaneous venous malformations , chronic anemia , decreased visual acuity , and proptosis or enopthalmos of the eye .   systemic therapy has not yet successfully treated optic cases of brbns , but has achieved varied outcomes in other forms of the disease . multiple reports have shown interferon- and corticosteroids to be unsuccessful in long - term treatment of multi focal , large gi lesions , . however , recent publications have suggested that sirolimus may be beneficial in the treatment of gastrointestinal bleeds and anemia , . therapy with sirolimus can cause many side effects including hypertension , immunosuppression , renal failure , anemia and hyperlipidemia . in these cases no significant adverse symptoms were recorded except for a slight elevation in cholesterol in one patient . sirolimus was used in combination with propranolol to reduce adverse effects , but cutaneous lesions and melena were noted 10 days after the physicians attempted to wean the patient off the medication . this agent may , therefore , be considered for short - term treatment of ophthalmic forms of brbns , but prolonged use of the drug may be needed to successfully reduce symptoms . unfortunately , long - term use of sirolimus will likely expose patients to the potential adverse side effects of the drug . surgical treatment of chronic ophthalmic manifestations has been successful in our case as well as the other patients in our literature review , . endovascular embolization has been used to alleviate symptoms in patients presenting with dural arteriovenous fistulas , and surgical excision with other venous malformations in the orbit . embolization procedures have reduced symptoms in all the cases presented , but multiple procedures were often required . understanding the critical symptoms and potential treatment options will optimize the management of patients with this extremely rare disease and hopefully lead to improved outcomes . the patient in the case report gave consent to the authors to write up this publication and gave permission to use the images . the patient in the case report gave consent to the authors to write up this publication and gave permission to use the images .
objective : 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 . 
 methods : this paper is an observational case report and a review of medical literature on the syndrome from 1981 to present.results : 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.conclusions : 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 .