Optic neuritis, affecting various age groups but predominantly young adults, manifests in blurred vision and eye movement pain. In the UK, half of those affected later develop MS. Early evidence suggests starting highly effective MS treatments can enhance long-term health.
The condition results from optic nerve swelling, with MS-related cases resolving on their own. For non-MS cases, permanent optic nerve damage may occur, mitigated by steroids but with potential side effects.
Diagnosing optic neuritis causes uncertainty in steroid treatment benefits versus harms when the cause is unclear.
New research by the University of Exeter and King’s College London, published in Nature Communications, demonstrates that combining genetic MS risk with demographic factors significantly enhances MS risk prediction in optic neuritis cases.
Co-author Dr. Tasanee Braithwaite, consultant ophthalmologist, envisions integrating this research into clinical care, aiding early MS treatment for high-risk patients and urgent treatment for non-MS cases, potentially preventing irreversible vision loss.
Analyzing over 300 genetic MS-linked variants in 500,000 UK Biobank participants, the study identified 545 individuals with unexplained optic neuritis, of which 124 developed MS. The genetic risk score effectively differentiated low and high-risk groups, offering valuable information for decision-making.
Co-author Professor Richard Oram sees this as a practical example of precision genetic diagnosis, utilizing genetics to improve patient outcomes.
Dr. Clare Walton, Head of Research at MS Society, highlights the potential of genetic scores to predict MS progression, aiding decisions on immunotherapy use, potentially delaying MS onset.
The study’s significance lies in its potential impact on early MS diagnosis and treatment. Pavel, the lead analyst, finds the academic journey rewarding, anticipating further advancements in MS research.
