Journal List > J Korean Ophthalmol Soc > v.57(8) > 1010382

J Korean Ophthalmol Soc. 2016 Aug;57(8):1333-1338. Korean.
Published online August 12, 2016.
©2016 The Korean Ophthalmological Society
A Case of Wyburn-Mason Syndrome with Facial Nevus Flammeus and the Associated Optical Coherence Tomography Findings
Minkyung Song, MD,1 Dae Hee Kim, MD,2 and Hyosook Ahn, MD, PhD1
1Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
2Department of Ophthalmology, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.

Address reprint requests to Hyosook Ahn, MD, PhD. Department of Ophthalmology, Asan Medical Center, #88 Olympic-ro 43-gil, Songpa-gu, Seoul 05505, Korea. Tel: 82-2-3010-3676, Fax: 82-2-470-6440, Email:
Received April 14, 2016; Revised June 22, 2016; Accepted July 29, 2016.

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.



To describe a case of Wyburn-Mason Syndrome, which is a rare phakomatosis, and its associated optical coherence tomography findings.

Case summary

A 5-year-old boy was referred to our clinic for decreased vision in his right eye. He had nevus flammeus on his right forehead, upper eyelid, and cheek. His best corrected visual acuity was hand motion in the right eye, in which a relative afferent pupillary defect was noted. Fundus examination of the right eye showed marked dilation and tortuosity of retinal vessels, which could not be discriminated between arteries and veins on the posterior pole. Optical coherence tomography showed multiple large intraretinal vessels without involvement of the internal limiting membrane. Cerebral angiography revealed arteriovenous malformations (AVMs) and feeder vessels from the internal carotid artery to the ophthalmic artery, extending to the ethmoidal artery in the nasal cavity.


Wyburn-Mason syndrome is a rare phakomatoses and shows unique retinal AVM. Misdiagnosis or undertreatment of Wyburn-Mason syndrome can lead to serious complications. Patients with facial nevus flammeus should undergo thorough ocular examinations to rule out this disorder. Optical coherence tomography is a useful method for understanding structural features of retinal vascular malformations in Wyburn-Mason syndrome.

Keywords: Arteriovenous malformation; Nevus flammeus; Optical coherence tomography; Racemose hemangioma; Wyburn-Mason syndrome


Figure 1
Facial photo of the patient. Nevus flammeus was seen on the right forehead, nose, upper lid and cheek.
Click for larger image

Figure 2
Fundus findings of the patient. (A) The fundus photograph of the affected eye showed characteristic retinal vascular features of enlarged and tortuous vessels with "Bag of Worms" appearance. (B) The wide field fundus photograph of the affected eye showed vascular abnormality mostly confined to the posterior pole. (C) Fluorescein angiography of the affected eye. Very rapid arterial and venous filling was noted only at 4 seconds after injection. (D) No fluorescein leakage was noted even in the late phase.
Click for larger image

Figure 3
Spectral domain optical coherence tomography of the affected eye. Multiple vascular enlargements within the retina caused prominent shadowing artifacts. Abnormal vascular structures were confined to the intraretinal structure without involvement of the highly reflective membrane structure regarded as the internal limiting membrane.
Click for larger image

Figure 4
Cerebral angiography of the right internal carotid artery (ICA) and three dimensional reconstruction of vascular structure. Direct communication from ICA to ophthalmic artery was noted. Arteriovenous malformations involved the right orbit, optic chiasm, hypothalamus and midbrain.
Click for larger image


This study was presented as a poster at the 114th Annual Meeting of the Korean Ophthalmological Society 2015.

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