Wyburn-Mason syndrome: A condition so rare you probably haven’t heard of it

Post date: 
Friday, 15 September 2017
Dan Jefferies

Dan Jeffries has written a memoir about living with Wyburn-Mason syndrome. Here he answers 10 questions about what it's like to have his extremely rare medical condition.

1. What is Wyburn-Mason syndrome? 

Wyburn-Mason syndrome is a non-hereditary condition that affects the vascular system, causing arteriovenous malformation (AVM) of the eye and brain. An AVM is a tangle of abnormal and poorly formed blood vessels. In my case, it involves the optic disc, retina and the midbrain, which is important to the movements of the eye and visual processing.
 
2. When did you first develop Wyburn-Mason syndrome and how long did it take to get the diagnosis? 
 
My dad is partially sighted and when I was four, he took me to an optician just as a matter of precaution. The optician looked into my eyes and saw this huge mass of enlarged vessels and, not knowing what it was, referred me to Bristol Eye Hospital. And that’s where the journey started.
Dan Jeffries' left eye
 
3. How much can you see? 
 
I’m completely blind in my left eye. I can’t see any light or shade, nothing. My right eye is short sighted (around -7) and I have poor peripheral vision due to also developing acromegaly (a benign tumour in the pituitary gland) in my twenties. It’s likely that it rested on the optic nerve and once it was removed, my peripheral vision was damaged.
 
4. Do you know how many people have the condition in the world? 
 
It’s thought there have been fewer than 30 reported cases worldwide in the last 50 years. If you round that figure up for ease, to 100 cases; it equates to about one in 70 million. It’s strangely empowering to be that rare!

 

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