Wyburn-Mason Syndrome

Author: Ann E Bidwell, MD; Chief Editor: Hampton Roy Sr, MD more...

Updated: Feb 9, 2010

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Background
Pathophysiology
Epidemiology
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Background

Wyburn-Mason syndrome, also known as Bonnet-Dechaume-Blanc syndrome, is a rare condition characterized by arteriovenous malformations (AVMs) in the retina of one eye and in the CNS. An example of an AVM is shown in the image below.

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.

Although these combined vascular abnormalities were recognized prior to the reports of Bonnet (1937)^[1]and Wyburn-Mason (1943),^[2]this syndrome is most frequently associated with Wyburn-Mason, who initially categorized the entity with detailed descriptions of 9 case histories. This condition is considered to be congenital, nonhereditary, and without sex or race predilection. Other vascular malformations may be present elsewhere in the body, including facial skin.

Pathophysiology

AVMs are characterized by variable alterations in capillary and arteriolar networks. Small vascular malformations may be subtle, with only minor alterations within the capillary system. Alternatively, the large "bag of worms" racemose lesions are characterized by direct artery-to-vein communication, without interposing capillary or arteriolar elements.

Frequency

United States

Incidence is rare.

International

Incidence is rare.

Race

No racial predilection is noted.

Sex

No sexual predilection is noted.

Age

Wyburn-Mason syndrome is a congenital disorder. Larger AVMs causing visual or neurologic impairment are generally diagnosed earlier in life, whereas smaller lesions may not be diagnosed until later in life.

Proceed to Clinical Presentation

Contributor Information and Disclosures

Author

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.

Specialty Editor Board

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

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

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles

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

Disclosure: Nothing to disclose.

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

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, Pan-American Association of Ophthalmology, Sigma Xi, and Southern Medical Association

Disclosure: Nothing to disclose.

Lance L Brown, OD, MD Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

References

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Wyburn-Mason R. Arteriovenous aneurysm of midbrain and retina, facial naevi and mental changes. Brain. 1943;66:163-203.
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Archer DB, Deutman A, Ernest JT, Krill AE. Arteriovenous communications of the retina. Am J Ophthalmol. Feb 1973;75(2):224-41. [Medline].
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