Researchers from King’s College London (KCL) and the University of Exeter have developed a new genetic risk tool that could save sight and help diagnose multiple sclerosis (MS) in young adults much earlier.
Published in Nature Communications, the study revealed that genetic risk for MS in combination with demographic factors could significantly improve MS risk predictions in people presenting with optic neuritis, an inflammatory condition that affects the eye and vision.
Responsible for approximately 2.8 million cases worldwide, MS is a disabling neurological disease that affects the nerves in the brain and spinal cord.
With MS-related optic neuritis, the swelling tends to subside on its own and vision usually recovers. In comparison to other people with optic neuritis who do not suffer from MS, the disease can result in permanent damage unless they receive high doses of steroids.
Researchers analysed and combined more than 300 common genetic variants linked to MS into a genetic risk score to help clinicians understand an individual’s likelihood of developing the disease.
Using 500,000 people’s data from the UK Biobank, researchers found that 2,369 people were living with MS and 687 people had optic neuritis, 547 of whom had no identifiable cause for their condition at the beginning of the study and 124 of whom later developed MS.
By implementing the genetic risk score, researchers were able to separate people who were at lowest risk from those who were at high risk of developing MS, which could support doctors and patients when making decisions.
Co-author of the study, Dr Tasanee Braithwaite, adjunct senior lecturer at KCL and consultant ophthalmologist, medical eye unit at Guy’s and St Thomas NHS Foundation Trust, said: “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.
“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.”
She continued: “I’m excited by the possibility of translating this pilot research into front line clinical care in the near future.”