MULTIPLE SCLEROSIS: Genetic risk assessment to avoid optic neuritis

This new genetic risk tool could prevent blindness in young people with multiple sclerosis while still allowing effective treatment to begin earlier.

Optic neuritis is a possible manifestation of multiple sclerosis.

Optic neuritis It is a disease that affects people of all ages, but especially young people. The condition usually results in blurred vision and sometimes pain when moving the eyes. Almost half of people who experience these chronic symptoms eventually develop multiple sclerosis, often years later. Optic neuritis occurs due to swelling in or around the optic nerve. In people with optic neuritis caused by multiple sclerosis, the swelling goes away on its own and vision is usually restored. In many people whose optic neuritis is not a result of multiple sclerosis, the optic nerve may be permanently damaged unless high doses of steroids are given quickly. However, steroids can also cause harmful side effects. Therefore, when a patient first develops optic neuritis, it is difficult for doctors decide whether the possible benefits of steroids outweigh the side effectsespecially when the cause of optic neuritis is unclear.

Determine if there is a root cause Therefore, treatment of optic neuritis is a priority. However, this diagnosis can be difficult for doctors due to the number of tests required and the delay in receiving results. By demonstrating that combining genetic risk for multiple sclerosis with certain demographic factors is generally more predictive of risk for multiple sclerosis in patients with optic neuritis, the study marks a critical step in its diagnosis.

One of the lead authors, Dr Tasani Braithwaite, consultant ophthalmologist at Guy’s and St Thomas’ NHS Foundation Trust and senior lecturer at King’s College London, notes: “As a physician who treats many patients with optic neuritis, I am excited about this new diagnostic and first-line clinical care option. Although more research is needed, our study provides a strong signal that patients can expect earlier treatment for multiple sclerosis in the future and

to avoid, where possible, blindness.

Studying analyzed more than 300 common genetic variants associated with the development of multiple sclerosis, combining them into a genetic risk score that helps doctors understand a patient’s risk of developing multiple sclerosis. An analysis of data from 500,000 UK Biobank participants identified 2,369 people with multiple sclerosis and 687 people with optic neuritis. Of these participants, 545 had no identifiable cause of optic neuritis at baseline, and 124 developed multiple sclerosis.

• Effective use of the genetic risk score has been able to distinguish individuals at the lowest risk from those at the highest risk;
• Although assessing genetic risk for multiple sclerosis is not a diagnostic test, the study shows that it can provide valuable additional precision for making better treatment decisions.

Finally, The study shows how using genetic measures can be a useful way to predict which patients are more likely to be diagnosed with multiple sclerosis. In addition, the use of immunotherapy in these high-risk patients with multiple sclerosis can significantly delay the onset of the disease and its debilitating symptoms.