103 results match your criteria Wyburn-Mason Syndrome

Ultrawide Field Imaging of Progressive Retinal Arteriovenous Malformation in a Pediatric Patient with Wyburn-Mason Syndrome.

Ophthalmic Surg Lasers Imaging Retina 2022 01 1;53(1):46-48. Epub 2022 Jan 1.

Wyburn-Mason syndrome (WMS) is a rare congenital disease that presents with unilateral arteriovenous malformation (AVM) in the visual pathway, midbrain, and/or skin. We report a case of a 5-year-old girl with a history of cerebral and orbital AVM who presented with left exotropia and was found to have group 3 retinal AVM consistent with WMS. Here, we use ultrawide field imaging to show the progression of retinal AVM and peripheral nonperfusion areas for a period of 1 year in a pediatric patient with WMS. Read More

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January 2022

Cerebrofacial vascular metameric syndrome is caused by somatic pathogenic variants in .

Cold Spring Harb Mol Case Stud 2021 12 9;7(6). Epub 2021 Dec 9.

Seattle Children's Hospital, Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98105, USA.

Disorganized morphogenesis of arteries, veins, capillaries, and lymphatic vessels results in vascular malformations. Most individuals with isolated vascular malformations have postzygotic (mosaic), activating pathogenic variants in a handful of oncogenes within the PI3K-RAS-MAPK pathway (Padia et al., 4: 170-173 [2019]). Read More

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December 2021

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Curr Probl Diagn Radiol 2021 Aug 28. Epub 2021 Aug 28.

Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO.

Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Read More

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The Natural History of Retinal Vascular Changes from Infancy to Adulthood in Wyburn-Mason Syndrome.

Medicina (Kaunas) 2020 Nov 9;56(11). Epub 2020 Nov 9.

Department of Ophthalmology, Faculty of Medicine, Comenius University, 821 01 Bratislava, Slovakia.

Wyburn-Mason syndrome is a rare, non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations. Malformations are characterized by an artery that is directly connected to veins without a capillary system and forms a fragile mass of abnormal vessels. It can be found in the midbrain, in the eyes, orbit, and rarely in cutaneous nevi. Read More

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November 2020

Bilateral Congenital Prepapillary Retinal Arterial Loop.

Neuroophthalmology 2020 12;44(5):344-348. Epub 2019 Dec 12.

Department of Ophthalmology, Dokuz Eylul University Medical Faculty, Izmir, Turkey.

Prepapillary vascular loops are rare congenital vascular abnormalities of the retinal vasculature. This mostly benign condition can sometimes cause complications such as branch retinal artery occlusion and vitreous haemorrhage. Disc collaterals, neovascularisation of the optic disc, idiopathic retinal vasculitis, aneurysms and neuroretinitis (IRVAN) syndrome and Wyburn Mason syndrome should be kept in mind for the vascular differential diagnosis. Read More

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December 2019

Retinal Arteriovenous Malformation Occlusion and Optic Nerve Drusen: Casuality or Causality?

Ophthalmic Surg Lasers Imaging Retina 2020 07;51(7):418-419

Multimodal imaging of an impending retinal vein occlusion in an arteriovenous malformation associated with optic nerve drusen (OND) in a 16-year-old girl affected by Wyburn-Mason Syndrome. The authors seek to determine whether the association between the two entities has had an additive role in the acute retinal vascular event. [Ophthalmic Surg Lasers Imaging Retina. Read More

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Optical coherence tomography of racemose angioma.

Clin Case Rep 2020 Jul 12;8(7):1299-1300. Epub 2020 Apr 12.

ASG Eye Hospital Kolkata India.

Wyburn-Mason syndrome is associated with racemose angioma of the retina and arteriovenous malformation of the brain. Optical coherence tomography and MRI angiography may be used to document the vascular lesion of the retina and brain, respectively. Read More

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Child with Wyburn-Mason syndrome presenting with sudden onset of intracranial haemorrhage.

BMJ Case Rep 2020 Jul 16;13(7). Epub 2020 Jul 16.

Department of Radiology, St John's Medical College Hospital, Bangalore, India.

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Wyburn-Mason Syndrome in an 11-Year-Old Girl.

JAMA Ophthalmol 2020 05 14;138(5):e191452. Epub 2020 May 14.

Department of Ophthalmology, Kindai University Faculty of Medicine, Osaka, Japan.

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Detection of Occult Arteriovenous Malformation With Annular Array Ultrasonography.

Ophthalmic Surg Lasers Imaging Retina 2020 04;51(4):239-243

Retinal vascular tortuosity may occur in a wide range of ocular disorders. When retinal vascular tortuosity involves both arteries and veins, and presents unilaterally and without hemorrhage, a diagnosis of Wyburn Mason syndrome (WMS) should be considered due to the potential morbidity and mortality associated with cerebral involvement. Magnetic resonance imaging (MRI) and MRI angiography (MRA) are important tools for identifying cerebral arteriovenous malformations (AVMs), but these imaging modalities have limited spatial resolution to detect very small vascular lesions. Read More

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Spectrum of peripheral retinal ischemia in Wyburn-Mason syndrome.

Am J Ophthalmol Case Rep 2020 Jun 4;18:100640. Epub 2020 Mar 4.

Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Department of Ophthalmology, 900 NW 17th Street, Miami, FL, 33136, USA.

Purpose: We report two cases of Wyburn-Mason syndrome that illustrate the spectrum of peripheral retinal ischemia seen in this condition.

Observations: A 12-year-old female presented with a retinal arteriovenous malformation and sclerotic vessels associated with retinal ischemia on fluorescein angiography, as well as an ipsilateral ophthalmic arteriovenous malformation on magnetic resonance imaging. An 11-year-old male presented with retinal vascular engorgement and tortuosity along with a central retinal vein occlusion and secondary neovascularization. Read More

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Dilated and tortuous retinal vessels as a sign of Cantu syndrome.

Ophthalmic Genet 2019 10 4;40(5):453-454. Epub 2019 Oct 4.

Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.

When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can present with tortuous and dilated retinal vessels. Read More

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October 2019

[Central venous occlusion in Wyburn-Mason syndrome].

Ophthalmologe 2020 Apr;117(4):376-378

Universitätsaugenklinik, Otto-von-Guericke-Universität, Magdeburg, Deutschland.

The diagnostic findings, therapy and course of disease are described for a case of central venous occlusion in Wyburn-Mason-Syndrome. The diagnosis was based on OCT, fluorescein angiography and cMRI. In addition, due to the macular edema an intravitreal injection with Ranibizumab was applied. Read More

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Management of retinal artery macroaneurysm exudation in Wyburn-Mason syndrome with intravitreal ranibizumab.

Indian J Ophthalmol 2019 04;67(4):556

Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Medical Research Foundation, Chennai, Tamil Nadu, India.

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Familial Cavernous Hemangioma.

J Neuroophthalmol 2020 06;40(2):262-264

Baylor College of Medicine (GT), Houston, Texas; Department of Ophthalmology (ATK, BAO, AGL), Blanton Eye Institute, Houston Methodist Hospital, Houston, Texas; The Houston Methodist Research Institute (AGL), Houston Methodist Hospital, Houston, Texas; Departments of Ophthalmology, Neurology, and Neurosurgery (AGL), Weill Cornell Medicine, New York, New York; Department of Ophthalmology (AGL), University of Texas Medical Branch, Galveston, Texas; University of Texas MD Anderson Cancer Center (AGL), Houston, Texas; Texas A and M College of Medicine (AGL), Bryan, Texas; and Department of Ophthalmology (AGL), The University of Iowa Hospitals and Clinics, Iowa City, Iowa.

A 30-year-old woman presented with diplopia after resection of an intracranial cavernous malformation. Fundus examination showed an asymptomatic intraocular cavernous hemangioma of the retina. Clinicians should be aware of the potential coexistence of intraocular and intracranial cavernous malformations; the presence of both should suggest familial etiology. Read More

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Evaluación multimodal de la malformación arteriovenosa de la retina en el síndrome de Wyburn-Mason.

Arch Soc Esp Oftalmol (Engl Ed) 2019 Mar 2;94(3):e21-e22. Epub 2018 Dec 2.

Department of Ophthalmology, Clínica São João de Deus, Lisbon, Portugal.

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Wyburn-Mason syndrome presenting with bilateral retinal racemose hemangioma with unilateral serous retinal detachment.

Indian J Ophthalmol 2018 Dec;66(12):1869-1871

Department of Vitreo-Retinal Services, Aravind Eye Hospital and Post Graduate Institute of Ophthalmology, Madurai, Tamil Nadu, India.

Wyburn-Mason syndrome is associated with unilateral retinal racemose hemangioma. Rarely, it presents with bilateral and symmetrical grade of malformation. We describe a 37-year old male, who presented with Wyburn-Mason syndrome presenting with bilateral but asymmetrical retinal hemangioma. Read More

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December 2018

Image Gallery: Wyburn-Mason syndrome with a chronic wound.

Br J Dermatol 2018 09;179(3):e134

Department for Vascular Medicine, Angiology, HELIOS Klinikum Krefeld GmbH, Krefeld, Germany.

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September 2018

Wyburn-Mason Incidentally Diagnosed on Evaluation of Eye Redness.

Ophthalmology 2017 12;124(12):1763

Baylor College of Medicine, Department of Ophthalmology-Cullen Eye Institute, Houston, Texas; Texas Children's Hospital, Houston, Texas.

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December 2017

[Retinal arteriovenous malformation].

J Fr Ophtalmol 2017 Feb 10;40(2):146-147. Epub 2017 Jan 10.

CHU-Hôpital Nord, université d'Aix-Marseille, chemin des Bourrely 13015 Marseille, France.

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February 2017


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

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Wyburn Mason Syndrome: A Rare Phacomatosis.

Ophthalmology 2016 Aug;123(8):1787

Iladevi Cataract and IOL Research Centre, Raghudeep Eye Clinic, Memnagar, Ahmedabad, Gujarat, India.

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[Racemosa hemangioma or Wyburn Mason or Bonnet-Dechaume-Blanc incomplete syndrome].

J Fr Ophtalmol 2016 Jun 31;39(6):583-5. Epub 2016 May 31.

Unidad de Neurooftalmología. Servicio de Oftalmología. Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, España.

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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

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Wyburn-Mason Syndrome.

Ophthalmology 2016 Jan;123(1):50

University of New Mexico Eye Center, Albuquerque, New Mexico.

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January 2016

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

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December 2015