Questions about MS? Call us on 0808 800 8000
image shows a dna helix

New genetics research could help diagnose MS earlier

Caitlin Astbury

Researchers have developed a way to predict whether people with optic neuritis will go on to be diagnosed with MS. 

Around half of people with optic neuritis are ultimately diagnosed with MS, often many years later.

Evidence suggests that starting treatments early can slow down progression of MS. But it’s hard to predict which people with optic neuritis will develop MS. If doctors knew this as soon as possible, they could treat people more quickly with the right drugs.

What is optic neuritis?

Optic neuritis is a condition that affects the eye and your vision. It is caused by inflammation of the optic nerve. This is the nerve that carries messages from the eye to the brain. It can involve pain with eye movement and temporary vision loss in one eye. It is associated with a number of conditions, including MS.

What did the researchers do?

Researchers at the University of Exeter and King’s College London used data from the UK Biobank from around 700 people who had experienced optic neuritis. This included 545 people who didn’t have a diagnosis of MS when they first developed optic neuritis.

Researchers combined genetic information from each of these people with information about their age and sex. By combining these they could make a score to predict whether someone would go on to be diagnosed with MS.

When they compared it with data showing who did go on to develop MS, researchers found that their predictive score was able to effectively separate those at low risk of developing MS from those at a higher risk.  

What does this mean for people with MS?

Optic neuritis can be one of the first symptoms of MS, which people can experience years before a diagnosis. For people with MS-related optic neuritis, the inflammation usually goes away on its own and vision recovers. 

But not everyone with optic neuritis goes on to develop MS. For many people with non-MS-related optic neuritis, there can be permanent damage to the vision if they aren’t treated quickly with high doses of steroids. But these can come with harmful side effects. 

Being able to predict early on who is at a high risk of developing MS could help doctors to decide the best treatment option for people with optic neuritis. And with more research could help diagnose and treat MS earlier than current methods allow. 

Dr Tasanee Braithwaite, consultant ophthalmologist to the Medical Eye Unit at Guy’s and St Thomas NHS Foundation Trust, and Adjunct Senior Lecturer at King’s College London said: “As a doctor caring for many patients with optic neuritis, I’m excited by the possibility of translating this pilot research into front line clinical care in the near future. 

Whilst more research is needed, our study provides a strong signal that we could better identify patients at high risk of MS, perhaps enabling these people to have earlier MS treatment in the future. Whereas, if we could better identify people whose optic neuritis is very unlikely to result from MS, we could treat these people urgently to reduce irreversible vision loss and blindness."

Dr Clare Walton, our Head of Research, said: “130,000 people live with MS in the UK and one in five will have experienced optic neuritis at the start of their MS journey. This research shows how using genetic scores could be a useful way to predict who will likely continue to an MS diagnosis. 

This research has come at an exciting time as there is increasing global interest in finding ways to prevent MS. Using immunotherapies in people at high risk of MS could significantly delay the onset of the condition, but these drugs come with side effects. 

This exciting study opens up the possibility of finding people in which the benefits will outweigh the risks. We look forward to seeing this prediction model improved through further research.”