Wyburn-Mason Syndrome

Abstract

A 47-year-old man presented to have his eyes tested for glasses. Wyburn-Mason syndrome, a retinal vascular abnormality, had been diagnosed in his left eye 25 years previously. His best corrected visual acuity was 20/20 in the right eye and 20/30+1 in the left eye. Funduscopic examination of his left eye showed dilated and tortuous vessels that extended from the optic disc to the macula. Pigmentary degeneration could be seen in the macula, explaining the decreased visual acuity in that eye. The vessels beyond the disc appeared sclerosed and nonfunctioning. Fluorescein angiography confirmed nonviable sclerosed vasculature. Original funduscopic images from 25 years earlier showed abnormal but apparently hemodynamically functioning vessels. Wyburn-Mason syndrome is one of the phakomatoses defined by arteriovenous malformations that affect the visual pathways, midbrain, and subcutaneous facial structures.1Ayazifar M Snady-McCoy L Abnormal-appearing retinal vessels.in: Steidl SM Hartnett ME Clinical Pathways in Vitreoretinal Disease. Thieme, New York, NY2003: 183-202Google Scholar Primarily a unilateral disorder, it is nonhereditary and does not appear to have a sex predilection.2Mansour AM Walsh JB Henkind P Arteriovenous anastomoses of the retina.Ophthalmology. 1987; 94: 35-40Abstract Full Text PDF PubMed Scopus (39) Google Scholar Our patient had no skin lesions or history of any neurologic disorder. He had never undergone neuroimaging and declined use of the modality at this time. Although it was once believed that these vessel anomalies were stationary, this case illustrates that major remodeling can occur in patients with Wyburn-Mason syndrome. Besides involutional changes such as attenuation and sclerosis from spontaneous vessel obstruction, marked elongation, tortuosity, and dilation from the continued growth and development of these presumed mature blood vessels can occur over a period of years.3Augsburger JJ Goldberg RE Shields JA Mulberger RD Magargal LE Changing appearance of retinal arteriovenous malformation.Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1980; 215: 65-70PubMed Google Scholar