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    RETINAL ARTERIOVENOUS MALFORMATION.
    Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S11-S13
    *Department of Ophthalmology, California Pacific Medical Center, San Francisco, California; and †West Coast Retina Medical Group, San Francisco, California.
    Purpose: To describe a case of an isolated Group 3 retinal arteriovenous malformation (AVM).

    Methods: Observational case report.

    Results: A 15-year-old girl with no significant medical history presented with no light perception vision in her right eye and gradually decreasing vision in her left eye over several years. Read More

    Cerebral Arteriovenous Malformation in Wyburn-Mason Syndrome.
    J Pediatr Ophthalmol Strabismus 2016 Apr 23;53 Online:e15-7. Epub 2016 Apr 23.
    The cases of Wyburn-Mason syndrome reported in recent years have been professional and significant. However, most of the reports focus on retinal lesions and few demonstrate the disorder of the brain; thus, to the best of the authors' knowledge, there is no effective method to cure the retinal lesions at this time. Racemose hemangioma in the ocular fundus is easy for an ophthalmologist to detect, and once this is identified, the ophthalmologist should closely monitor the patient's brain. Read More

    Mosaic Neurocutaneous Disorders and Their Causes.
    Semin Pediatr Neurol 2015 Dec 12;22(4):207-33. Epub 2015 Nov 12.
    Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy; Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.
    Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a mosaic patterning (usually arranged in archetypical patterns). Alternating segments of affected and unaffected skin or segmentally arranged patterns of abnormal skin often mirror similar phenomena occurring in extra-cutaneous organs/tissues [eg, eye, bone, heart/vessels, lung, kidney and gut]. Read More

    PHACE(S) syndrome.
    Handb Clin Neurol 2015 ;132:169-83
    Division of Pediatric Neurology, Nationwide Children's Hospital and Department of Neurology, Ohio State University, Columbus, OH, USA. Electronic address:
    PHACE(S) syndrome is a neurocutaneous disorder of unknown etiology. The acronym refers to the commonest features of PHACE: posterior fossa malformations, large facial hemangiomas, cerebral arterial anomalies, cardiovascular anomalies, and eye anomalies. When ventral developmental defects such as sternal clefting or supraumbilical raphe occur, the PHACES acronym may be used. Read More

    Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion.
    Ophthalmic Surg Lasers Imaging Retina 2015 Jul-Aug;46(7):760-2
    Retinal venous occlusive events are a rare complication of arteriovenous malformations of the retina found in Wyburn-Mason syndrome. The authors present a case of a 28-year-old man diagnosed with Wyburn-Mason syndrome and cutaneous reactive angiomatosis, a reactive angioproliferative disorder induced by vascular occlusion. He developed a central retinal vein occlusion complicated by macular edema and received treatment with intravitreal bevacizumab, which led to resolution of the edema. Read More

    Binarization of enhanced depth imaging optical coherence tomographic images of an eye with Wyburn-Mason syndrome: a case report.
    BMC Ophthalmol 2015 Mar 7;15:19. Epub 2015 Mar 7.
    Department of Ophthalmology, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima, 890-8520, Japan.
    Background: To report a thicker choroid and larger choroidal luminal area in an eye with Wyburn-Mason syndrome. To the best of our knowledge, this is the first report demonstrating an increase in the choroidal thickness and the luminal area in a case of Wyburn-Mason syndrome. In addition, we report the changing appearance of retinal arteriovenous malformations over a 16-year period. Read More

    Anomalous optical coherence tomography findings in Wyburn-Mason syndrome and isolated retinal arteriovenous malformation.
    J AAPOS 2015 Apr 28;19(2):175-7. Epub 2015 Mar 28.
    Albany Medical College, Department of Ophthalmology, Albany, New York.
    We report 2 cases of unilateral retinal arteriovenous malformation (AVM) with previously unreported anomalies of the inner retinal layers detected on spectral domain optical coherence tomography (SD-OCT): a 5-year-old girl with a large unilateral retinal AVM, ipsilateral visual acuity of 20/200, and ipsilateral intracranial AVM; and a 10-year-old boy with a large unilateral retinal AVM, ipsilateral visual acuity of 20/20, ipsilateral temporal visual field defects, and no intracranial AVM. Both macular SD-OCT findings showed multiple large inner retinal vessels that created a prominent shadowing artifact, retinal thickening, and speckling and heterogeneity of inner retinal layers. Read More

    Serous retinal detachment and cystoid macular edema in a patient with Wyburn-Mason syndrome.
    Semin Ophthalmol 2015 Mar 30;30(2):154-6. Epub 2013 Oct 30.
    Department of Ophthalmology, Duzce University, Medical Faculty , Duzce , Turkey.
    Wyburn-Mason syndrome is a rare phacomatosis characterized by unilateral arteriovenous malformations (AVMs) involving the brain, retina, and (rarely) the skin. The diagnosis is concluded with dilated fundus examination and markedly dilated tortuous vascular loops with arteriovenous communications on fluorescent angiography. We present a 14-year-old male patient with Wyburn-Mason syndrome who developed serous macular neuroretinal detachment, cystoid macular edema (CME), and consequent visual deterioration in the left eye. Read More

    Racemose hemangioma type 2: the first case report from the Middle East.
    Int Ophthalmol 2013 Feb 4;33(1):95-7. Epub 2012 Oct 4.
    Department of Ophthalmology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
    Retinal arteriovenous malformations are rare and most are reported to be asymptomatic. We report an 11-year-old boy who attended for blunt trauma to his eye. The first ophthalmologic examination was performed in Nikookari Hospital Eye Emergency Room. Read More

    Duane type I retraction syndrome associated with Wyburn-Mason syndrome.
    Ophthalmic Genet 2013 Mar-Jun;34(1-2):61-4. Epub 2012 Jun 14.
    Health Centre Nis, Department of Ophthalmology, Nis, Serbia.
    Purpose: Our aim is to report the co-existence of Duane's retraction syndrome and Wyburn-Mason syndrome, a rare condition characterized by arteriovenous malformations (AVMs) in the central nervous system and retina.

    Methods: An 11-year-old boy was referred for evaluation of strabismus present since birth. On examination his uncorrected visual acuity was 6/6 in each eye, with small angle left eye esotropia in the primary position, ipsilateral face turn, abduction deficit, lid fissure narrowing in adduction and widening in abduction; plus typical features of left-sided type I Duane syndrome were present. Read More

    Spontaneous regression in a case of racemose haemangioma archer's type 2.
    Retin Cases Brief Rep 2011 ;5(4):294-6
    From the Institut Universitari Barraquer, Universitat Autònoma de Barcelona, Barcelona, Spain.
    Background: Racemose hemangioma of the retina is a benign arteriovenous communication that can occur as an isolated solitary lesion or as a component of the Wyburn-Mason syndrome. We report a case of a patient with an Archer's type 2 arteriovenous malformation that spontaneously regressed.

    Methods: A retrospective clinical chart review. Read More

    Spontaneous development of macular ischemia in a case of racemose hemangioma.
    Clin Ophthalmol 2011 8;5:931-2. Epub 2011 Jul 8.
    Second Ophthalmology Department of Athens University, Attikon Hospital, Athens, Greece.
    Purpose: To report a rare case of racemose hemangioma which developed spontaneous macular ischemia.

    Methods: A 32-year-old healthy Caucasian lady presented complaining of recent deterioration of vision in her left eye. At presentation, her best corrected visual acuity (BCVA) was 20/20 in her right eye and counting fingers in her left eye (LE). Read More

    A twisted mess.
    Surv Ophthalmol 2012 Jan-Feb;57(1):77-82. Epub 2011 May 31.
    Dean McGee Eye Institute, Oklahoma City, OK 73104, USA.
    A 12-year-old girl presented with painless decreased vision in the left eye. Dilated fundus examination was consistent with Wyburn-Mason syndrome, and subsequent neuroimaging demonstrated a retro-orbital arteriovenous malformation. The etiology of the vision loss is discussed, as well as management options of Wyburn-Mason syndrome. Read More

    Junctional visual field loss in a case of Wyburn-Mason syndrome.
    J Neuroophthalmol 2012 Mar;32(1):42-4
    Department of Ophthalmology, Stanford University School of Medicine, Stanford, CA 94303, USA.
    A previously healthy girl failed a routine eye screening at the age of 6 years. Her visual fields showed generalized depression in the right eye and a superotemporal defect in the left eye, consistent with a junctional scotoma. Funduscopic examination and fluorescein angiography revealed markedly dilated tortuous vascular loops with arteriovenous communications consistent with retinal arteriovenous malformations (AVMs). Read More

    Vascular tumors of the retina and choroid: diagnosis and treatment.
    Middle East Afr J Ophthalmol 2010 Jul;17(3):191-200
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
    The vascular tumors of the retina and choroid comprise a diverse group of congenital and acquired lesions. The major vascular tumors of the retina include retinal capillary hemangioma, cavernous hemangioma of the retina, retinal vasoproliferative tumor, and racemose hemangiomatosis of the retina or Wyburn-Mason syndrome. Choroidal vascular tumors include circumscribed choroidal hemangioma and diffuse choroidal hemangioma. Read More

    Wyburn-Mason syndrome: a case report.
    B-ENT 2010 ;6(2):139-41
    Department of Otolaryngology, Head and Neck Surgery, University Hospital Giessen, & Marburg, Campus Marburg, Germany.
    Objective: Wyburn-Mason syndrome is a rare disease associated with multiple arteriovenous malformations of the brain, orbit, and face resulting from an insult occurring during embryonic development.

    Case Report: We present the clinical and radiological features of a 47-year-old-man with Wyburn-Mason syndrome who suffered from recurrent bleeding episodes primarily at the nasal corner of the left orbit. After radiotherapy and several angioembolisations, surgical reduction with exenteration of the left orbit was performed and resulted in reduced bleeding. Read More

    Pediatric and inherited neurovascular diseases.
    Neurosurg Clin N Am 2010 Jul;21(3):427-41
    Department of Neurosurgery, University of Michigan, 1500 East Medical Center Drive, Room 3552, Ann Arbor, MI 48109-5338, USA.
    Pediatric and inherited neurovascular syndromes have diverse presentations and treatments. Although many of these diseases are uncommon, they must be included in the differential diagnosis for children with strokes or hemorrhages. In neurosurgical practice, familial cavernous malformations, hereditary hemorrhagic telangiectasia (HHT), and moyamoya are the most frequently encountered of these diseases. Read More

    [Retinal arteriovenous malformation].
    Ophthalmologe 2010 Dec;107(12):1153-5
    Augenklinik, Heinrich-Heine-Universität Düsseldorf, Moorenstraße 5, Düsseldorf, Germany.
    The case of a 27-year-old patient is described who presented at our hospital with an asymptomatic retinal vascular alteration which was found during a routine check-up. The typical clinical presentation led to the diagnosis of an arteriovenous malformation. Further diagnostics did not show any indications for an involvement of brain or facial blood vessels. Read More

    Rhegmatogenous retinal detachment in Wyburn-Mason syndrome: case report.
    Arq Bras Oftalmol 2010 Jan-Feb;73(1):88-91
    Department of Ophthalmology, Universidade do Estado do Rio de Janeiro - Rio de Janeiro (RJ) - Brazil.
    Wyburn-Mason is a rare vascular disorder, comprised of arteriovenous malformations (AVMs) of the midbrain and retina. It can cause visual symptoms depending on its localization and extension. Vitreous and intraretinal hemorrhage and neovascular glaucoma have been previously described. Read More

    Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome).
    Eur J Med Res 2010 Feb;15(2):89-91
    University Freiburg, Augenklinik, Killianstr. 5, 79106 Freiburg, Germany.
    Purpose: Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome.

    Methods: MRI and cerebral angiography.

    Results: In a 36-year-old man, magnetic resonance imaging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Read More

    [Retinal racemose hemangioma (Wyburn-Mason syndrome)--a patient ten years follow-up: case report].
    Arq Bras Oftalmol 2009 Jul-Aug;72(4):545-8
    Serviço de Oftalmologia do Hospital, Hospital Universitário Professor Edgard Santos, Universidade Federal de Bahia, Salvador, Brazil.
    To describe the case of a patient who presents retinal racemose hemangioma (Wyburn-Mason syndrome) and his 10 years follow-up. Ten years after the disease diagnosis, the ophthalmologic exam had no changes, as well as the campimetry and the retinography. The long term prognosis is controversial. Read More

    Pathogenesis and radiobiology of brain arteriovenous malformations: implications for risk stratification in natural history and posttreatment course.
    Neurosurg Focus 2009 May;26(5):E9
    Department of Neurosurgery, Stanford University School of Medicine, Stanford, California 94305-5487, USA.
    Brain arteriovenous malformations (BAVMs) are an important cause of intracerebral hemorrhage (ICH) in young adults. Biological predictors of future ICH risk are lacking, and controversy exists over previous studies of natural history risk among predominantly ruptured BAVM cohorts. Recent studies have suggested that the majority of BAVMs are now diagnosed as unruptured lesions, and that the risk according to natural history among these lesions may be less than previously assumed. Read More

    [Congenital retinocephalic facial vascular malformation syndrome. Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome].
    Ophthalmologe 2009 Jan;106(1):61-8; quiz 69
    Unversitäts-Augenklinik Freiburg, Freiburg, Deutschland.
    The congenital retinocephalic facial vascular malformation syndrome is characterized by unilateral, nonhereditary retinal and cerebral arteriovenous malformations (AVMs) and is occasionally associated with orbital vascular changes. Typical signs are facial and oral mucosal vascular changes, rarely with changes of the maxilla or mandible. An AVM causes high blood flow because of direct connection (shunting) of major vessels without interposition of capillaries. Read More

    Orbital exenteration after transarterial embolization in a patient with Wyburn-Mason syndrome: pathological findings.
    Jpn J Ophthalmol 2008 Jul-Aug;52(4):308-13. Epub 2008 Sep 5.
    Department of Ophthalmology, Okayama University Graduate School of Medicine Dentistry, and Pharmaceutical Sciences, Okayama, Japan.
    Background: We present the pathological findings at orbital exenteration in a patient with Wyburn-Mason syndrome who underwent transarterial embolization.

    Case: A 31-year-old man with a 10-year history of gradual exacerbation of left exophthalmos and left cheek swelling was found to have facial and orbital arteriovenous malformations on the left side. There was no vascular malformation in the brain. Read More

    Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder.
    Acta Neurochir (Wien) 2008 Jul 12;150(7):725-7. Epub 2008 Jun 12.
    Department of Neurosurgery, University Hospital of Aalborg, Aalborg, Denmark.
    A 30 year old young male was admitted to our department after experiencing clinical symptoms of a subarachnoid haemorrhage. Imaging studies revealed large cerebral AVMs. Fundus examination of the left eye demonstrated a retinal racemose AVM almost completely covering the posterior pole of the eye. Read More

    The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature.
    Surv Ophthalmol 2008 May-Jun;53(3):227-49
    Department of Ophthalmology, University Freiburg, Freiburg, Germany.
    Retinal arteriovenous malformations represent a rare syndrome in which a direct connection of major vessels without interposition of capillaries may lead to various complications such as thrombosis and vessel occlusion. This review comprises the computer-stored data of all the 121 patients with arteriovenous malformations described in the literature. Twenty-seven patients had typical Bonnet-Dechaume-Blanc syndrome (in this article designated as congenital retinocephalofacial vascular malformation syndrome), 25 had incomplete congenital retinocephalofacial vascular malformation syndrome (without facial skin lesions), 57 had isolated retinal arteriovenous malformations, and 12 had arteriovenous communications of the retina and distinct neurological signs, but without neuroradiological evidence of cerebral arteriovenous malformations (presumed cerebral arteriovenous malformations). Read More

    Fibrotic racemose haemangioma of the retina.
    Klin Monbl Augenheilkd 2008 May;225(5):495-6
    Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
    Background: The racemose - or arteriovenous - haemangioma of the retina is a rare developmental anomaly. It can be associated with similar vascular anomalies in other regions of the central nervous system (Wyburn-Mason syndrome).

    History And Signs: We report a 24-year-old woman with a chronic headache from our outpatient clinic. Read More

    [Wyburn-Mason syndrome].
    Oftalmologia 2007 ;51(3):69-74
    Clinica Oftalmologică, Timişoara.
    Introduction: The Wyburn-Mason or Bonnet, Dechaume, and Blanc syndrome is a rare congenital anomaly formed of malformations of the retinal vessels, orbito-cerebral vessels, and, rarely, facial vessels.

    Case Report: Male patient, 19 years old, examined because of a severe visual loss and exophthalmos at the left eye. The ophthalmoscopic examination reveals extensive retinal arterio-venous malformations, also confirmed at orbito-cerebral level by ultrasound and MRI DISCUSSION: The Wyburn-Mason syndrome is due to arterio-venous anastomosis, being included in the phakomatosis group. Read More

    Wyburn-Mason syndrome associated with thyroid arteriovenous malformation: a first case report.
    AJNR Am J Neuroradiol 2007 Jun-Jul;28(6):1153-4
    Department of Cerebrovascular Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
    A 31-year-old woman with a prior history of Wyburn-Mason syndrome, complicated previously by a left thalamic intracerebral hemorrhage at age 21, complained of sudden left vision loss due to a central retinal vein occlusion. Angiography revealed a left thyroid arterio-venous malformation (AVM) in addition to ones found intracerebrally. The pathogenesis and embryogenesis of this finding including the management of AVMs in Wyburn-Mason syndrome are discussed. Read More

    A case report of Wyburn-Mason syndrome and review of the literature.
    Neuroradiology 2007 May 18;49(5):445-56. Epub 2007 Jan 18.
    Department of Ophthalmology and Visual Sciences, Washington University, School of Medicine, 660 South Euclid Avenue, Campus Box 8096, St. Louis, MO, 63110, USA.
    Introduction: Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi.

    Methods: We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973.

    Results: In this review, we report on a 4(1/2)-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. Read More

    Craniofacial vascular malformations in Wyburn-Mason syndrome.
    J Chin Med Assoc 2006 Dec;69(12):575-80
    Department of Radiology, Taipei Veterans General Hospital and National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
    Background: Wyburn-Mason syndrome (WMS) is a rare syndrome associated with multiple arteriovenous malformations (AVMs) involving the orbit, brain and/or face. The purpose of this study was to analyze the imaging spectrums of craniofacial vascular malformations in 14 patients with WMS.

    Methods: The medical records of 14 patients with the diagnosis of WMS who underwent neuroimaging studies (computed tomography [CT], 8; magnetic resonance imaging [MRI], 12; conventional angiography, 14) were reviewed, emphasizing the location, extension and type of facial, orbital and brain vascular malformations. Read More

    Retinal and intracranial arteriovenous malformations: Wyburn-Mason syndrome.
    J Neuroophthalmol 2005 Sep;25(3):205-8
    Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan 48105, USA.
    A 7-year-old girl who failed a vision screening examination was found to have a retinal arteriovenous malformation (AVM) in her right eye along with a small angioma of her right lower lip. Magnetic resonance imaging and cerebral angiography revealed a large AVM involving the thalamus and basal ganglia as well as a small AVM involving the right ophthalmic artery. The combination of retinal and intracranial AVMs is known as Wyburn-Mason syndrome. Read More

    Wyburn-Mason syndrome.
    J Neuroimaging 2005 Jul;15(3):284-5
    Service of Neurology, National Institute of Neurology and Neurosurgery, Mexico City.
    Wyburn-Mason syndrome is an uncommon condition in which arteriovenous malformations coexist in the visual brain area, in the retina, and in some cases, in the face. As a consequence, it has recently been defined as a brain-retino-facial angiomatosis. The syndrome results from an embryonary insult in the development of the optic nerve path and the related vessels from its origin in the mesencephalon all the way to the projection to the retina where it usually causes unilateral manifestations. Read More

    Retinal vascular tumors.
    Ophthalmol Clin North Am 2005 Mar;18(1):167-76, x
    Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
    Retinal vascular tumors can be classified into four distinct clinical entities, which include retinal capillary hemangioma, retinal cavernous hemangioma, retinal arteriovenous communications (Wyburn-Mason syndrome), and retinal vasoproliferative tumor. Read More

    A neurocutaneous disorder with a severe course: Wyburn-Mason's syndrome.
    J Child Neurol 2004 Nov;19(11):908-11
    Department of Pediatrics, Catania University, Italy.
    Wyburn-Mason's syndrome is a rare neurocutaneous disorder consisting mainly of unilateral arteriovenous malformations of the midbrain and retina with multiple cutaneous nevi. The authors report on the clinical presentation, neurologic phenotype, and long-term neurologic follow-up of two unrelated children. The first patient had recurrent epistaxis during early childhood. Read More

    Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case report.
    J Neurosurg 2001 Aug;95(2):346-9
    Division of Neurological Surgery, Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona 85013-4496, USA.
    Wyburn-Mason syndrome is a rare condition associated with multiple cerebral arteriovenous malformations. The disease, also called retinoencephalofacial angiomatosis, includes lesions of the retina, brain, and skin. This disorder stems from a vascular dysgenesis of the embryological anterior plexus early in the gestational period when the primitive vascular mesoderm is shared by the involved structures. Read More

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