Weekend Bytes - Wyburn-Mason Syndrome!



-Also known as Bonnet-Bechaume-Blanc syndrome, Congenital Unilateral Retinocephalic Vascular Malformation Syndrome, Racemose Angiomatosis.


-Non-hereditary congenital neurocutaneous disorder leading to arteriovenous malformations of the brain, orbit, retina and skin.

-Caused by an abnormality in the development of blood vessels during embryonic or fetal growth.


DIAGNOSIS:

-Fundus Exam: Unilateral tortuous dilated retinal vessels.


-FFA: Rapid filling of vascular anomalies without significant leakage.


-OCT: enlarged thickened retinal vessels and retinal edema.


-MRI: indicates the location, size, mass effect, edema of intracranial arteriovenous malformations


-Cerebral angiography: displays the characteristics of feeding arteries and draining veins, indicates the exact architecture of the anomaly


OCULAR MANIFESTATIONS:

-Proptosis

-Blepharoptosis

-Abnormally dilated vessels of the conjunctiva

-Nerve palsies

-Nystagmus

-Strabismus

-Decreased visual acuity or total blindness (retinal ischemia, intraocular lesions)

-Vitreous Hemorrhage

-Vein occlusions

-Retinal Detachment

-Neovascular Glaucoma

-Rubeosis Iridis

-Optic Disc Edema

-Optic Atrophy


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