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Wyburn-Mason Syndrome Clinical Presentation

  • Author: Andrew G Lee, MD; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Apr 09, 2015
 

History

Neurologic symptoms of Wyburn-Mason syndrome (WMS) are extremely variable and depend on the size, location, and configuration of the central nervous system (CNS) AVM. Mental status or neuropsychiatric changes, headaches, seizures, stroke, hemiparesis, visual-field abnormalities (homonymous hemianopia), subarachnoid hemorrhage, intracerebral hemorrhages, increased intracranial pressure (papilledema), cranial neuropathies, and/or hydrocephalus may occur. Extracranial AVMs may manifest as potentially life-threatening oral hemorrhages or epistaxis.

Similarly, neuro-ophthalmic signs symptoms due to retinal AVM are related to AVM size, extent, and location. Small AVMs may produce no visual symptoms, whereas larger AVMs may lead to profound vision loss. These signs and symptoms include retinal and vitreous hemorrhages, retinal detachment, venous occlusive disease (and secondary risk of rubeosis iridis and secondary glaucoma), optic disc edema, or optic atrophy. Intracranial AVMs may produce secondary neuro-ophthalmic manifestations, including papilledema, pupillary changes, homonymous hemianopia, ptosis, proptosis, gaze paresis, cranial nerve palsies, strabismus, nystagmus, and, in childhood, superimposed amblyopia.[4, 5, 6, 7, 8, 9]

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Physical

Associated intracranial AVMs are more commonly found in patients with large, racemose retinal vascular anastomoses. CNS vascular lesions are typically ipsilateral to the involved eye, and they frequently involve the midbrain.[4, 10, 11] In some cases, retinal lesions may result from an extension of an intracranial vessel malformation, extending anteriorly along the visual pathway, through the optic foramen, and along the optic nerve to the retina.

The ophthalmoscopic appearance of the retinal AVM may vary from small, abnormal vessel communications to extensive racemose involvement of the entire fundus. Retinal AVMs typically appear as dilated and tortuous retinal vessels extending from the optic disc to the retinal periphery, resembling a “bag of worms.” Also referred to as cirsoid aneurysm, arteriovenous aneurysm, arteriovenous communication of the retina, racemose hemangioma, and arteriovenous varix, these abnormal retinal vessels typically remain stable and do not demonstrate leakage on fluorescein angiography (FA). Associated ocular complications have been reported.

Archer et al classified retinal AVMs into 3 groups, as follows:[12]

  • Group I is characterized by small arteriole-venule anastomoses, which may be subtle and difficult to clinically detect. These vessels are usually isolated to a sector or quadrant of the retina.
  • Group II represents direct artery-to-vein communication without intervening capillary or arteriolar elements causing hyperdynamic flow through low-resistance veins. This group may represent an exaggerated form of the abnormalities included in group I and is likewise geographically segmented within the fundus. Complications can range from edema to hemorrhage.
  • Group III includes malformations characterized by markedly convoluted, dilated, and tortuous retinal vessels extending throughout the entire fundus, making it virtually impossible to differentiate between arterial and venous components. These eyes are usually severely vision impaired, typically leading to earlier diagnosis in childhood. Patients in this group are at higher risk for systemic vascular involvement.

Theron and coworkers reviewed 80 cases of retinal vascular anastomoses and found that 30% of these patients also had CNS AVMs, a rate that is much lower than the 81% association reported by Wyburn-Mason.[13] Bech and Jensen believe that the original statistics from Wyburn-Mason are too high, noting that many of Wyburn-Mason's patients had no angiographic or pathologic evidence of intracranial vascular malformations.[14] The preponderance of patients with more advanced retinal lesions in the Wyburn-Mason study may have made associated CNS lesions more likely.

Intracranial and retinal AVMs are occasionally accompanied by vascular malformations in the facial skin, oronasopharnyx, orbit, lung, and bone. Facial lesions may involve the eyelids, cheeks, forehead, and other regions. Orbital involvement can present with proptosis, which may be pulsatile and have an accompanying bruit.

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Causes

The etiology of Wyburn-Mason syndrome is unknown.

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Contributor Information and Disclosures
Author

Andrew G Lee, MD Chair, Department of Ophthalmology, Houston Methodist Hospital; Clinical Professor, Associate Program Director, Department of Ophthalmology and Visual Sciences, The University of Texas Medical Branch; Clinical Professor, Department of Surgery, Division of Head and Neck Surgery, University of Texas MD Anderson Cancer Center; Professor of Ophthalmology, Neurology, and Neurological Surgery, Weill Medical College of Cornell University; Clinical Associate Professor, University of Buffalo, State University of New York School of Medicine

Andrew G Lee, MD is a member of the following medical societies: American Academy of Ophthalmology, Association of University Professors of Ophthalmology, American Geriatrics Society, Houston Neurological Society, Houston Ophthalmological Society, International Council of Ophthalmology, North American Neuro-Ophthalmology Society, Pan-American Association of Ophthalmology, Texas Ophthalmological Association

Disclosure: Received ownership interest from Credential Protection for other.

Coauthor(s)

Nagham Al-Zubidi, MD Fellow in Neuro-ophthalmology, Department of Ophthalmology, The Methodist Hospital, Weill Cornell Medical College

Disclosure: Nothing to disclose.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

J James Rowsey, MD Former Director of Corneal Services, St Luke's Cataract and Laser Institute

J James Rowsey, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for the Advancement of Science, American Medical Association, Association for Research in Vision and Ophthalmology, Florida Medical Association, Sigma Xi, Southern Medical Association, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Gerhard W Cibis, MD Clinical Professor, Director of Pediatric Ophthalmology Service, Department of Ophthalmology, University of Kansas School of Medicine

Gerhard W Cibis, MD is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Ophthalmological Society

Disclosure: Nothing to disclose.

Acknowledgements

Ann E Bidwell, MD Assistant Professor, Department of Ophthalmology, Northwestern University, Feinberg School of Medicine

Ann E Bidwell, MD is a member of the following medical societies: American Academy of Ophthalmology

Disclosure: Nothing to disclose.

References
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Dilated arteriovenous system representing a well-compensated unilateral retinal arteriovenous malformation. This 12-year-old girl had 20/20 vision and a negative systemic evaluation.
 
 
 
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