Wyburn-Mason Syndrome Workup

Updated: Feb 16, 2023
  • Author: Andrew G Lee, MD; Chief Editor: Hampton Roy, Sr, MD  more...
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Approach Considerations

Wyburn-Mason syndrome usually is defined by the clinical findings.


Imaging Studies

Retinal AVMs typically are diagnosed ophthalmoscopically, but smaller lesions might require fluorescein angiography (FA). FA may demonstrate the abnormal retinal arteriovenous communications or the presence or absence of intervening capillary networks. Most AVMs are stable on FA and do not leak in late phases of the angiogram.

Ultrasonography and high-resolution imaging such as optical coherence tomography (OCT), spectral-domain optical coherence tomography (SD-OCT), and adaptive optics (AO) can be used to confirm the diagnosis and demonstrate structural changes over time in the nerve fiber layer, macula, and retina. [17, 21]

Intracranial AVMs are best diagnosed with cranial CT or magnetic resonance imaging (MRI) with and without contrast, computed tomography angiography (CTA) or magnetic resonance angiography (MRA), or catheter cerebral arteriography. In general, standard catheter angiography is considered the gold standard and can better demonstrate the size, location, and other key characteristics of the feeding arteries and draining veins. [22]

MRI provides additional important structural information on the extent of the AVM and any associated hemorrhage. Catheter arteriography offers a more comprehensive analysis of the exact angioarchitecture of the lesion.


Histologic Findings

Histologically, retinal AVMs demonstrate vessels to have a fibromuscular media of varying thickness and wide fibrohyaline adventitial coats. Arteries and veins may be indistinguishable and, in some cases, occupy the entire thickness of the retina. [23]