1. Blue rubber bleb nevus syndrome: a tale of two eyes
David L. Simons, MD, PhD
COS Grand rounds, 2016

2. 57 y.o. male known history of Blue Rubber Bleb Nevus Syndrome
Blue Rubber WHAT?!?!?

3. Blue Rubber Bleb Nevus Syndrome
Very rare (~150 cases in the literature)
Numerous vascular malformations of skin, GI tract, other soft tissues
Non-cancerous, but the GI lesions can cause chronic bleeding, anemia, even obstruction or intussusception

4. 57 y.o. male known history of Blue Rubber Bleb Nevus Syndrome
referred by optometrist for 3 weeks of progressive vision loss OD
review of records:
1 month ago:
CC: redness OS
EXAM: 20/20 OU; normal exam OD, 1+ injection OS
IOP: 22 OD, 29 OS
1 week ago:
CC: worsening vision OD
EXAM: 20/100 OD, 20/20 OS; normal exam OD, worse injection OS
IOP: 18 OD, 27 OS
Tx: start on oral pred (60 mg), refer

5. Now in your exam room
CC: further decrease in vision OD, worsening redness and ache OS
ROS: No diplopia, scalp tenderness, jaw claudication, trauma
PMH: Blue rubber bleb nevus syndrome, HTN, mild anemia
FH: negative

6. Exam RIGHT LEFT VA CF@6” 20/20 IOP 20 35 rAPD Yes No Hertel 21 mm
NOTE: these photos s/p first intervention.
RIGHT
LEFT VA
20/20
IOP 20 35
rAPD
Yes No
Hertel
21 mm
24.5 mm
Conjunctiva
Mildly dilated vessels
chemosis and corkscrew vessels
Lids/Cornea/AC/Lens
Normal
Proptosis, otherwise normal
Disc
Retina/Vessels

7. MRI orbits w/wo
Extensive dural thickening and enhancement of the sella, clivus, and cavernous sinuses, L>R. No other space-occupying lesions in the deep orbits.

8. Dural AV fistula (indirect CCF)
???
Left eye diagnosis:
Classic findings:
proptosis
corkscrew vessels
elevated IOP
dilated superior ophthalmic vein on imaging
Our patient did have HTN, which is a risk factor
BRBNS is characterized by vascular malformations

9. So why is he blind OD? Optic neuropathy:
Toxic/nutritional/traumatic? – No
Inflammatory? – history not quite right, no typical T2 lesions
Compressive? – possible (some enhancement along wall of R optic canal, can’t completely rule out compression)
Ischemic?
AION – No
PION – Possible (ophthalmic steal?)

10. Ophthalmic steal phenomenon?
?? Decreased OA perfusion pressure due to venous shunting (and he had mild anemia)

11. Interventional radiology
PRE
Underwent coiling of:
Bilateral distal internal maxillary arteries
Bilateral ascending pharyngeal arteries
POST

12. VA
IOP

14. Summary Thank you! Extensive dural AV fistulae in the setting of BRBNS
Possible right ophthalmic steal vs. compression in optic canal
Underwent coiling procedure: CF vision -> 20/25 OD
Conjunctival engorgement & proptosis OS improved
After multiple subsequent IR procedures the IOP OS improved
Thank you!