J Korean Ophthalmol Soc > Volume 57(8); 2016 > Article
Journal of the Korean Ophthalmological Society 2016;57(8):1333-1338.
DOI: https://doi.org/10.3341/jkos.2016.57.8.1333    Published online August 15, 2016.
A Case of Wyburn-Mason Syndrome with Facial Nevus Flammeus and the Associated Optical Coherence Tomography Findings.
Minkyung Song, Dae Hee Kim, Hyosook Ahn
1Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. drahn323@gmail.com
2Department of Ophthalmology, Myongji Hospital, Seonam University College of Medicine, Goyang, Korea.
화염상모반을 동반한 와이번 메이슨 증후군 환자 1예의 임상양상과 빛간섭단층촬영 소견
울산대학교 의과대학 서울아산병원 안과학교실1, 서남대학교 의과대학 명지병원 안과학교실2
Correspondence:  Hyosook Ahn,
Email: drahn323@gmail.com
Received: 14 April 2016   • Revised: 22 June 2016   • Accepted: 29 July 2016
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. CONCLUSIONS: 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.
Key Words: Arteriovenous malformation;Nevus flammeus;Optical coherence tomography;Racemose hemangioma;Wyburn-Mason syndrome

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