Home » Early diagnostics engineered for patients with multiple sclerosis: the target is optic neuritis leading to blindness

Early diagnostics engineered for patients with multiple sclerosis: the target is optic neuritis leading to blindness

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Early diagnostics engineered for patients with multiple sclerosis: the target is optic neuritis leading to blindness

Optic neuritis is a condition that affects people of all ages, but especially young adults, usually manifesting as blurred vision and sometimes pain when you move your eyes. Emerging evidence indicates that starting highly effective MS treatments early can improve long-term health. Currently, 130,000 people are living with MS in the UK and one in five will have experienced optic neuritis early in their disease journey. Optic neuritis occurs due to swelling in or around the optic nerve. In people with MS-related optic neuritis, the swelling goes away on its own and vision usually recovers. For many people whose optic neuritis does not result from MS, the optic nerve can be permanently damaged unless high doses of steroids are given quickly, resulting in vision loss. However, everyone knows that steroids cause serious side effects.

When people first develop optic neuritis, it can be difficult for patients and their doctors to decide whether the possible benefits of steroids outweigh the possible harms, when the likely cause of optic neuritis is unclear. Identifying whether there is an underlying cause of optic neuritis can be difficult for doctors, as many important test results take weeks to return. Now, new research led by the University of Exeter and King’s College London has shown for the first time that combining genetic risk for MS with demographic factors significantly improves the prediction of MS risk in people with optic neuritis. . The team analyzed more than 300 common genetic variants linked to the development of MS, combining them into a genetic risk score that helps doctors understand an individual’s chance of developing MS.

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It analyzed data from 500,000 people in the UK Biobank, who shared genetic samples, questionnaires and related health information. Scientists found 2,369 people with MS in the UK Biobank and 687 people with optic neuritis. Of these, 545 had no identifiable cause for their optic neuritis at the start of the study and 124 later developed MS. The application of the genetic risk score effectively helped separate subjects at lower risk from those at high risk. Although the MS Genetic Risk Score is not a diagnostic test, this study highlights that it could add valuable additional information to support doctors and patients to make better decisions. It is possible that the use of immunotherapies in people at high risk for MS could significantly delay the onset of the condition.

The clinic has well established that even these biological drugs cause side effects over time. The researchers behind this study open up the possibility of finding people where the benefits will outweigh the risks.

By Dr. Gianfrancesco Cormaci, PhD, specialist in Clinical Biochemistry.

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Scientific publications

Loginovic P et al. Nature Commun 2024 Feb 28; 15:1415.

Al-Iedani O et al. J Mult Scler Relat Disord. 2024; 81:105379.

Lin X et al. J Neurol Neurosurg Psych. 2023; 94(7):526-531.

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