- Email: [email protected]
Wyburn-Mason Syndrome
Ophthalmology
Volume 123, Number 1, January 2016
Data collection: Folgar, Yuan, Sevilla, Chiu, Farsiu, Obtained funding: Toth Overall responsibility: Folgar, Chiu, Farsiu, Chew, Toth Abbreviations and Acronyms: AMD ¼ age-related macular degeneration; AREDS2 ¼ Age-Related Eye Disease Study 2; CFP ¼ color fundus photography; CGA ¼ central geographic atrophy; CI ¼ confidence interval; CNV ¼ choroidal neo-
vascularization; GA ¼ geographic atrophy; OCT ¼ optical coherence tomography; OR ¼ odds ratio; RAT ¼ RPEDC abnormal thinning; RPE ¼ retinal pigment epithelium; RPEDC ¼ retinal pigment epitheliumedrusen complex; SD ¼ spectral-domain. Correspondence: Cynthia A. Toth, MD, Duke Eye Center, Duke University Medical Center 3802, Durham, NC 27710. E-mail: [email protected].
Pictures & Perspectives
Wyburn-Mason Syndrome A 6-year-old boy presented with light perception vision and an afferent pupillary defect in the right eye. Dilated fundus examination disclosed large, dilated, and tortuous vessels (Fig 1A). Optical coherence tomography showed intraretinal and subretinal fluid (Fig 1B, arrow) along the maculopapillary bundle. Magnetic resonance imaging revealed right optic canal/orbital apex enhancement (Fig 1C, arrow) and small serpiginous vessels with flow-voids along the posterior orbit (Fig 1D, arrow). Ophthalmologic and neuroradiologic findings were consistent with Wyburn-Mason syndrome e a congenital, sporadic, unilateral, asymptomatic disorder without racial or gender predilection characterized by retinal/intracranial arteriovenous malformations. Treatment options include observation, radiosurgery, endovascular embolization, or surgical resection.
ANTON M. KOLOMEYER, MD, PHD ROBERT LAVIOLETTE TIMOTHY W. WINTER, DO University of New Mexico Eye Center, Albuquerque, New Mexico
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Volume 123, Number 1, January 2016
Data collection: Folgar, Yuan, Sevilla, Chiu, Farsiu, Obtained funding: Toth Overall responsibility: Folgar, Chiu, Farsiu, Chew, Toth Abbreviations and Acronyms: AMD ¼ age-related macular degeneration; AREDS2 ¼ Age-Related Eye Disease Study 2; CFP ¼ color fundus photography; CGA ¼ central geographic atrophy; CI ¼ confidence interval; CNV ¼ choroidal neo-
vascularization; GA ¼ geographic atrophy; OCT ¼ optical coherence tomography; OR ¼ odds ratio; RAT ¼ RPEDC abnormal thinning; RPE ¼ retinal pigment epithelium; RPEDC ¼ retinal pigment epitheliumedrusen complex; SD ¼ spectral-domain. Correspondence: Cynthia A. Toth, MD, Duke Eye Center, Duke University Medical Center 3802, Durham, NC 27710. E-mail: [email protected].
Pictures & Perspectives
Wyburn-Mason Syndrome A 6-year-old boy presented with light perception vision and an afferent pupillary defect in the right eye. Dilated fundus examination disclosed large, dilated, and tortuous vessels (Fig 1A). Optical coherence tomography showed intraretinal and subretinal fluid (Fig 1B, arrow) along the maculopapillary bundle. Magnetic resonance imaging revealed right optic canal/orbital apex enhancement (Fig 1C, arrow) and small serpiginous vessels with flow-voids along the posterior orbit (Fig 1D, arrow). Ophthalmologic and neuroradiologic findings were consistent with Wyburn-Mason syndrome e a congenital, sporadic, unilateral, asymptomatic disorder without racial or gender predilection characterized by retinal/intracranial arteriovenous malformations. Treatment options include observation, radiosurgery, endovascular embolization, or surgical resection.
ANTON M. KOLOMEYER, MD, PHD ROBERT LAVIOLETTE TIMOTHY W. WINTER, DO University of New Mexico Eye Center, Albuquerque, New Mexico
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