Inflammatory eye disease as a Canary in the Coal Mine for future autoimmune disease: combining genetic and other variables to enhance individual risk prediction

Research details

  • Type of funding: RCOphth / Fight for Sight Zakarian Award
  • Grant Holder: Dr Tasanee Braithwaite
  • Institute: Guy's and St Thomas' NHS Foundation Trust, London
  • Region: London
  • Start date: December 2022
  • End Date: November 2023
  • Priority: Prevention
  • Eye Category: Other
Brief Lay background

Eye inflammation is a common condition and can happen at any age. It occurs in response to infection, allergies, irritation, injury or trauma to the eyes. But it can also happen in people who have an autoimmune condition where their immune system mistakenly starts to attack healthy tissues.  

Eye inflammation can affect different parts of the eye – such as the white part of the eye (scleritis), the lining of the eye (uveitis) – and the optic nerve (optic neuritis).

What problem/knowledge gap does it help address

The researchers have identified that people with eye inflammation are at an increased risk of developing a broader autoimmune condition compared to the general population. For example, people who develop optic neuritis are at 285 times higher risk of multiple sclerosis (MS), which affects the nervous system. People who develop uveitis are 44 times more likely to get a disease affecting the spine called ankylosing spondylitis – and people who develop scleritis are four times more likely to develop the common joint disease, rheumatoid arthritis.

But currently, people who develop an inflammatory eye disease will have to live with the uncertainty of whether they will develop a broader autoimmune condition in the future – which can cause significant anxiety and stress.

Aim of the project

To identify risk factors linked with developing MS, ankylosing spondylitis or rheumatoid arthritis in people who have inflammatory eye disease – and to explore whether genetic information can further help to refine a person’s risk of developing these conditions in the future.

Key procedures/objectives
  1. Analyse anonymised routine medical record data from 57 million NHS England patients and 500,000 people from the UK Biobank dataset to identify environmental and genetic risk factors for these autoimmune diseases.
  2. Explore how to combine these risk factors into statistical models to identify patients who are at high or low risk of developing these autoimmune conditions in the future.
Potential impact on people with sight loss

Developing a tool that enables doctors to predict an individual’s risk of future autoimmune disease could help to transform management, counselling and possibly even health outcomes for patients with inflammatory eye disease. 

Earlier diagnosis and medical care for these autoimmune conditions could help reduce damage to a person’s body, improving their quality of life. Finding people at high risk sooner might also create a window for action – with personalised interventions to try and prevent or lessen the severity of an autoimmune condition.