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

• Published in: Medicina (Kaunas, Lithuania) Vol. 56; no. 11; p. 598
• Main Authors: Horkovicova, Kristina, Popov, Ivajlo, Tomcikova, Dana, Popova, Veronika, Krasnik, Vladimir
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI 09.11.2020; MDPI AG
• Subjects: Adult; angiomatosis; Arteriovenous Fistula - diagnostic imaging; arteriovenous malformations; Case Report; Female; Fluorescein Angiography; Humans; Infant; Intracranial Arteriovenous Malformations - diagnostic imaging; Neurocutaneous Syndromes - diagnostic imaging; Retinal Artery - diagnostic imaging; Wyburn-Mason syndrome; Wyburn-Mason syndrome; arteriovenous malformations; angiomatosis
• ISSN: 1648-9144; 1010-660X; 1648-9144
• DOI: 10.3390/medicina56110598

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. Neurological and ocular symptoms are the most common. Ocular signs and symptoms include abnormally dilatated vessels of conjunctiva, nystagmus, strabismus, vitreous hemorrhage, vein occlusions, retinal detachment, etc. Neurological symptoms may include headaches, paralysis, epistaxis, hydrocephalus, and hemiparesis. Imaging modalities such as MRI/CT angiography, optical coherence angiography, and fluorescein angiography are the most important for the identification of arteriovenous malformations. In our case report, we present an eight-month-old girl with an incidental finding of retinal angiomatosis on the left eye and was subsequently diagnosed with Wyburn-Mason syndrome. We compare the findings from the first visit to her clinical findings 20 years later.