BASICS
DESCRIPTION
• Also known as Bonnet–Dechaume–Blanc syndrome, congenital retinocephalic vascular malformation syndrome, or racemose hemangiomatosis
• Congenital, neurocutaneous condition usually characterized by unilateral CNS, ocular, and skin arteriovenous malformations (AVMs)
EPIDEMIOLOGY
Incidence
Rare
Prevalence
Unknown
RISK FACTORS
None
Genetics
Sporadic, no known locus
PATHOPHYSIOLOGY
• AVMs are abnormal vessel communications between arteries and veins.
• It may involve capillaries, arterioles, venules, arteries, or veins and are a result of defective vascular development.
DIAGNOSIS
HISTORY
• Can be asymptomatic
• Ophthalmologic symptoms
– Impaired vision
– Eye discomfort
– Double vision
– Conjunctival injection
– Decreased visual field
– Involuntary eye movements
• CNS symptoms
– Mental status changes
– Headache
– Emesis
– Seizures
– Weakness
• Dermatologic symptoms
– Birthmark
• Other symptoms
– Epistaxis
– Oral bleeding, for example, during dental extraction
PHYSICAL EXAM
• Ophthalmologic findings
– Decreased visual acuity
– May have afferent papillary defect
– Elevated intraocular pressure (IOP)
– Dilated conjunctival vessels
– Arteriovenous communications are divided into three groups:
– Group 1: Interposition of an abnormal capillary plexus between major vessels
– Group 2: Direct arteriovenous communication without interposition of capillaries
– Group 3: More extensive arteriovenous shunts often associated with vision loss
– Vessel sheathing
– Absent spontaneous venous pulsations
– Optic atrophy
– Optic nerve edema
– Strabismus
– Nystagmus
– Proptosis
• CNS findings
– Bruit
– Cranial nerve paresis
– Hemiparesis
– Hemianopsia
– Intracranial hemorrhage
– AVMs of the cerebrum and brainstem
• Dermatologic findings
– Facial angiomas, nevi, or pigmented lesions
• Other findings
• AVMs of the maxilla, pterygoid fossa, or mandible
DIAGNOSTIC TESTS & INTERPRETATION
Lab
Initial lab tests
• Complete ophthalmologic examination with indirect ophthalmoscopy
• Fluorescein angiography shows rapid arteriovenous transit without leakage
• Optical coherence tomography (1)
Follow-Up & Special Considerations
Follow for development of ocular complications
Imaging
Initial approach
• MRI
• Magnetic Resonance Angiography (MRA)
Follow-up & special considerations
Follow for development of neurologic complications
Diagnostic Procedures/Other
Clinical diagnosis
Pathological Findings
• Retinal histology
– Retinal vessels were thickened with fibromuscular media and wide, fibrohyaline adventitial coats.
– Retinal vessels may occupy entire thickness of retina touching retinal pigment epithelium.
– Loss of nerve fibers and ganglion cells
DIFFERENTIAL DIAGNOSIS
• Hypertension
• Retinal neovascularization
• Intraretinal microvascular abnormalities
• Retinal vessel collaterals
• Retinal telangiectasias
• Sturge–Weber syndrome
• Von Hippel–Lindau disease
• Rendu–Osler–Weber disease
• Familial retinal arteriolar tortuosity
• Congenital unilateral retinal macrovessels
TREATMENT
MEDICATION
• Topical medications for increased IOP:
– Beta-blockers
– Carbonic anhydrase inhibitors
– Prostaglandin analogues
– Alpha-2 receptor agonists
– Miotic agents
• Systemic medications for increased IOP
– Carbonic anhydrase inhibitors
– Hyperosmotic agents
• Treatment of amblyopia with patching +/− cycloplegia
• Anticonvulsant medications for seizures
ADDITIONAL TREATMENT
General Measures
• Spontaneous involution may occur.
• Monitor for ocular or neurologic complications.
Issues for Referral
• Neurology referral if retinal AVMs are noted
• Dermatology referral for skin lesions
SURGERY/OTHER PROCEDURES
• Ophthalmic surgery
– Scatter panretinal photocoagulation for neovascular complications following vein occlusions (2)
– Glaucoma filtration or cyclodestructive procedures for cases failing medical management (2)
– Vitrectomy for nonclearing vitreous hemorrhage
– Strabismus surgery when indicated
• Neurosurgical intervention (3)
– Endovascular embolization
– Surgical resection
– Radiosurgical procedures
ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
• Continued observation by:
– Ophthalmologist
– Neurologist/neurosurgeon
– Dermatologist
DIET
Regular
PATIENT EDUCATION
• National Institutes of Health Office of Rare Diseases Research
– http://rarediseases.info.nih.gov/
• National Organization for Rare Disorders (NORD)
– http://www.rarediseases.org/
PROGNOSIS
Depends on location and severity of lesions
COMPLICATIONS
• Vision loss
• Vein occlusions
• Neovascular glaucoma secondary to vein occlusion
• Secondary glaucoma due to increased episcleral venous pressure
• Vitreous hemorrhage
• Intracranial hemorrhage/stroke
• Seizures
• Uncontrolled oral bleeding
REFERENCES
1. Saleh M, Gaucher D, Sauer A, et al. Spectral optical coherence tomography analysis of a retinal arteriovenous malformation (Wyburn-Mason syndrome). J Fr Ophtalmol 2009;32(10):779–780.
2. Mansour AM, Wells CG, Jampol LM, et al. Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol 1989;107(2):232–236.
3. Achrol AS, Guzman R, Varga M, et al. Pathogenesis and radiobiology of brain arteriovenous malformations: Implications for risk stratification in natural history and posttreatment course. Neurosurg Focus 2009;26(5):E9.