A new genetic risk tool could be used to diagnose multiple sclerosis (MS) in the early stages, increasing the chance for patients to start an effective course of treatment. Medical Life Sciences News reports that the tools can identify a condition called optic neuritis. About half of all people with the condition go on to develop MS.

Optic neuritis is caused by inflammation of the optic nerve, and it can occur independently, but it’s often a precursor of MS. According to the MS Trust, optic neuritis is the first symptom of MS for one in four patients. The condition causes blind spots of areas of blurred vision in one eye, and it may be accompanied by pain when moving the eye.

People who go on to develop MS tend to recover from optic neuritis within four to six weeks, but occasionally it may persist for longer. People with non-MS related optic neuritis can suffer from permanent damage or even the loss of their sight unless the condition is treated early with steroids. However, steroids can have harmful side effects.

It’s a fairly common condition that typically affects people between the ages of 20 and 40, and it occurs more frequently in women than men. People with optic neuritis may be referred for routine testing by their doctor in case of potential MS. Sometimes the symptoms may be caused by other conditions.

The tests may include blood tests and MRI scans, but the results take several weeks in which crucial treatment time is lost. The new research, which was led by the University of Exeter and King’s College London, has shown that genetic risk for MS and demographic factors can support MS risk prediction, enabling doctors to make more informed diagnoses.

Co-author 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.”

Richard Oram, Co-Author, Professor of the University of Exeter Medical School, said: “Since the first genome was sequenced three decades ago, we’ve been working towards the promise of being able to use genetics to improve outcomes for individual patients. This research is an excellent example of precision genetic diagnosis in practice.”

The research study involved analysing data from 2,369 people who had MS, and included 687 people with MS. The genetic risk score helps doctors to identify patients who are at a lower or higher risk of developing MS. It is not a diagnostic tool, but it can support doctors when making clinical decisions.

Dr Clare Walton, Head of Research at MS Society, said: “Currently, 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.”

“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.”

MS is a disease that affects the central nervous system, and it’s estimated that about 130,000 people in the UK are living with it. The condition is usually diagnosed in the 20s or 30s, and it’s a lifelong condition that can be treated but not cured. It affects everyone differently and progresses at different rates.

If you would like some more information about multiple sclerosis and nerves damage or Gamma Knife surgery in the UK,  please contact Mr Jonathan Hyam of Amethyst Radiotherapy.