Wyburn-Mason syndrome

Cover Page


In the article, a description of a clinical case of an extremely rare isolated ophthalmic form of the Wyburn-Mason syndrome is presented. Etiology, pathogenesis, clinical picture, and diagnostic criteria of this disease are also described.

Yuriy S. Astakhov

Author for correspondence.
Academician I.P. Pavlov First St. Petersburg State Medical University
Russian Federation, Saint Petersburg

MD, PhD, DMedSc, professor

Svetlana G. Belekhova

Academician I.P. Pavlov First St. Petersburg State Medical University
Russian Federation, Saint Petersburg

MD, assistant

Aida A. Shakhnazarova

Diagnostic center № 7 (ophthalmological) for adults and children
Russian Federation, Saint Petersburg


Andranik Yu. Ovnanyan

Academician I.P. Pavlov First St. Petersburg State Medical University
Russian Federation, Saint Petersburg

MD, assistant. Ophthalmology Department

  • Archer DB, Deutman A, Ernest JT, Krill AE. Arteriovenous communications of the retina. Am J Ophthalmol. 1973;75:224-41. doi: 10.1016/0002-9394(73)91018-0.
  • Augsburger JJ, Goldberg RE, Shields JA, et al. Changing appearance of retinal arteriovenous malformation. Albrecht Von Graefes. Arch Klin Exp Ophthalmol. 1980;215:65-70. doi: 10.1007/BF00413398.
  • Bhojwani D, Vachhrajani M, Vasavada A. Wyburn Mason Syndrome: A Rare Phacomatosis. Ophthalmology. 2016Aug; 123(8):1787. doi: 10.1016/j.ophtha.2016.04.053.
  • Bonnet P, Dechaume J, Blanc E. L’anévrysme cirsoïde de la rétine (anévrysme racémeux). Ses relations avec l’anévrysme cirsoïde de la face et avec l’anévrysme cirsoïde du cerveau. Journal de médecine de Lyon. 1937;18:165-78.
  • Brea GB. Angioma encefalo-oculo-faciale (Sindrome di Bonnet, Dechaume e Blanc). Rivista Neurolog. 1963;33:455-74.
  • Brock S, Dyke CG. Venous and arteriovenous angiomas of the brain. A clinical and roentgenographic study of eight cases (case 3). Bull Neurol Inst New York. 1932;2:257-65.
  • Brodsky MC, Hoyt WF. Spontaneous involution of retinal and intracranial arteriovenous malformation in Bonnet-Dechaume-Blanc syndrome. Br J Ophthalmol. 2002;86:360-1. doi: 10.1136/bjo.86.3.360.
  • Chowaniec MJ, Suh DW, Boldt HC, et al. Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation. J AAPOS. 2015Apr;19(2):175-7. doi: 10.1016/j.jaapos.2014.09.019.
  • Dayani PN, Sadun AA. A case report of Wyburn-Mason syndrome and review of the literature. Neuroradiology. 2007;49:445-456. doi: 10.1007/s00234-006-0205-x.
  • De Keizer RJW, van Dalen JTW. Wyburn-Mason syndrome. Subcutaneous angioma extirpation after preliminary embolisation. Doc Ophthalmol. 1981;50:263-73. doi: 10.1007/BF00158008.
  • Dekking HM. Arteriovenous aneurysm of the retina with spontaneous regression. Ophthalmologica. 1955;130:113-5. doi: 10.1159/000302653.
  • Effron L, Zakov ZN, Tomsak RL. Neovascular glaucoma as a complication of the Wyburn-Mason syndrome. J Clin Neuroophthalmol. 1985;5:95-98.
  • Fujita H, Nakano K, Kumon Y, et al. A case of 1958 Wyburn-Mason syndrome. Rinsho Shinkeigaku. 1989;29:1039-44.
  • Glees M. Arteriovenoses Aneurysma des Augenhintergrundes und der gleichseitigen Großhirnhemisphare. Klin Monatsbl Augenheilkd. 1954;124:457-60.
  • Krug EF, Samuels B. Venous angioma of the retina, optic nerve, chiasm and brain. A case report with postmortem observations. Arch Ophthalmol. 1932;8:871-9. doi: 10.1001/archopht.1932.00820190091010.
  • Maeda H, Fujieda M, Morita H, Kurashige T. Wyburn-Mason syndrome – a case report. No To Hattatsu. 1992;24:65-9.
  • Magnus H. Aneurysma arterioso-venosum retinale. Virchows Arch Pathol Anat. 1874;60:38-45. doi: 10.1007/BF01938766.
  • Mansour AM, Wells CG, Jampol LM, Kalina RE. Ocular complications of arteriovenous communications of the retina. Arch Ophthalmol. 1989;107:232-236. doi: 10.1001/archopht.1989.01070010238029.
  • Muthukumar N, Prabakara Sundaralingam M. Retinocephalic vascular malformation: case report. Br J Neurosurg. 1998;12: 458-60. doi: 10.1080/02688699844718.
  • Odom GL. Ophthalmic involvement in neurological vascular lesions, case 14. In: Neuro-Ophthalmology Symposium. Ed by J.L. Smith. University of Miami: Springfield IL, Charles C Thomas Publishers; 1964; P. 244-7.
  • Onder HI, Alisan S, Tunc M. Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome. Semin Ophthalmol. 2015 Mar;30(2):154-6. doi: 10.3109/08820538.2013.835832.
  • Patel KH, Kalevar A, Mcdonald HR, Johnson RN. Retinal arteriovenous malformation. Retin Cases Brief Rep. 2017Winter;11 Suppl1: S11-S13. doi: 10.1097/ICB.0000000000000384.
  • Rao P, Thomas BJ, Yonekawa Y, et al. Peripheral Retinal Ischemia, Neovascularization, and Choroidal Infarction in Wyburn-Mason Syndrome. JAMA Ophthalmol. 2015Jul;133(7):852-4. doi: 10.1001/jamaophthalmol.2015.0716.
  • Reck SD, Zacks DN, Eibschitz-Tsimhoni M. Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome. J Neuroophthalmol. 2005;25:205-8. doi: 10.1097/01.wno.0000177301.82963.9f.
  • Sahoo IM, Sahoo RN, Das BS. Arteriovenous malformation of brain and eye. Indian J Ophthalmol. 1982;30:155-6.
  • Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome): review of the literature. Surv Ophthalmol. 2008;53:227-249. doi: 10.1016/j.survophthal.2007.10.001.
  • Selhorst JB. Phacomatoses. In: Walsh and Hoyt’s Clinical Neuro-Ophthalmology. Ed by N.R. Miller, N.J. Newman. Baltimore: Williams and Wilkins Co; 1998. Ed 5, vol 2, p. 2725-9, chapter 49.
  • Shah GK, Shields JA, Lanning RC. Branch retinal vein obstruction secondary to retinal arteriovenous communication. Am J Ophthalmol. 1998;126:446-448 doi: 10.1016/S0002-9394(98)00103-2.
  • Théron J, Newton TH, Hoyt WF. Unilateral retinocephalic vascular malformations. Neuroradiology. 1974;7:185-96. doi: 10.1007/BF00342696.
  • Wyburn-Mason R. Arteriovenous aneurysm of midbrain and retina, facial naevi and mental changes. Brain. 1943;66:163-203. doi: 10.1093/brain/66.3.163.


Abstract - 16

PDF (Russian) - 11

Copyright (c) 2017 ECO-vector LLC

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.