Wyburn Mason – February 2017

February 2017

Case Presentation

A 21 year-old was referred to Illinois Retina Associates for abnormal vessels in her right eye. She had been experiencing flashing lights in her right eye for a few days and recently had a severe migraine episode which led to a visit to the emergency room, where she had a normal brain CT scan.


Her uncorrected visual acuity was 20/80 in the right eye, and 20/50 in the left eye, improved to 20/40 OU with pinhole. Anterior segment examination was unremarkable. On posterior segment examination, there were dilated and tortuous vessels in the superotemporal quadrant OD. The left eye posterior examination was unremarkable.

Differential Diagnosis

  • Arterio-Venous Malformation
  • Retnial Hemangioma
  • Retinal Capillary Heamngioblastoma (i.e. retinal angioma of von Hipple-Lindau)
  • Retinal Vasoproliferative Tumor (primary or secondary)

Diagnostic Testing

Fundus photography (Figures 1 & 2) and fluorescein angiogram (Figure 3) confirmed the presence of dilated and tortuous vessels in the superotemporal quadrant OD, with no evidence of leakage. Optical coherence tomography showed normal macula OD (Figure 4).

Figure 1
Figure 2
Figure 3
Figure 4


Given the typical appearance on clinical examination and imaging studies, a diagnosis of arterio-venous malformation on the Wyburn-Mason syndrome spectrum was made.


Given the possibility of an association of retinal arterio-venous malformations with other vascular anomalies of the brain and facial bones, MRI and MRA studies of the brain were recommended.


Wyburn-Mason is a congenital, non-hereditary condition that may go unnoticed for a long time if the malformations are minor and do not cause symptoms.

Patients with Wyburn-Mason syndrome can present a combination of systemic findings, the most common being:
Arteriovenous malformations of the

  • Retina; typically unilateral but of varying degrees of severity
  • orbit
  • brain; depending on location and severity, this can lead to various neurological symptoms
  • facial bones (maxilla and mandible), which could result in severe bleeding during dental procedures

Skin Findings

  • Nevi: subtle and uncommon

Visual complications are are but can occur if the malformation is leaking and resulting in macular edema.


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Ruggieri M., Konez O., Rocco Concenzo. Wyburn-Mason Syndrome. In: Ruggieri M. Pascual-Castroviejo I., Di Rocco C., ed. Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes New York, NY: Springer Vienna; 2008:345-352.

Kolomeyer AM, Laviolette R, Winter TW. Wyburn-Mason Syndrome Ophthalmology. 2016 Jan;123(1):50.

Bhojwani D, Vachhrajani M, Vasavada A. Wyburn Mason Syndrome: A Rare Phacomatosis Ophthalmology. 2016 Aug;123(8):1787.