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Review
. 2024 Aug 28;16(8):e68070.
doi: 10.7759/cureus.68070. eCollection 2024 Aug.

Wyburn-Mason Syndrome: A Narrative Review

Yasmin Shameem  1 , Saleha Irshad  1 , Nimrah Mirza  1 , Natalie Hassan  2
Affiliations
Review

Wyburn-Mason Syndrome: A Narrative Review

Yasmin Shameem et al. Cureus. .

Abstract

Wyburn-Mason syndrome is a rare congenital disorder characterized by arteriovenous malformations (AVMs) in the retina, brain, and occasionally the skin. The syndrome results from embryonic vascular abnormalities and presents with a wide spectrum of clinical manifestations, classified into three groups based on severity. Diagnosis relies heavily on imaging techniques, with optical coherence tomography (OCT) and cerebral angiography playing crucial roles. Management is typically conservative due to the stability of most AVMs, but intervention may be necessary when the rupture risk of intracranial AVMs exceeds 2.2% per year. Treatment options include endovascular embolization, surgical resection, and emerging therapies like intravitreal injections. This review emphasizes the importance of a multidisciplinary approach involving ophthalmologists, neurologists, and interventional radiologists, as well as regular monitoring of asymptomatic AVMs to optimize patient outcomes and quality of life.

Keywords: arteriovenous malformation; bonnett-bechaume-blanc syndrome; racemose angiomatosis; retinocephalic vascular malformation syndrome; wyburn-mason syndrome.

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Conflict of interest statement

Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. Location of AVMSs in 38 Patients Diagnosed With Wyburn-Mason Syndrome
AVM: Arteriovenous Malformation This Image Has Been Created by the Authors.
Figure 2
Figure 2. Management Modalities of 38 patients with Wyburn-Mason Syndrome
This Image Has Been Created by the Authors.
See this image and copyright information in PMC

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