New research explores a genetic test that could help prevent blindness in children with arthritis
New research from UCL Great Ormond Street Institute of Child Health (UCL GOS ICH) and the University of Manchester explores a genetic test that could help prevent blindness in children with arthritis.
The breakthrough comes as a result of research carried out by the CLUSTER Consortium, a UK-wide group of researchers led by Professor Lucy Wedderburn from UCL GOS ICH and Professor Kimme Hyrich at the University of Manchester.
The consortium is funded by the Medical Research Council, Versus Arthritis, Great Ormond Street Hospital Charity, the NIHR, Fight for Sight, and Olivia’s Vision.
The team identified genetic changes in young people with juvenile idiopathic arthritis (JIA) who also experienced eye inflammation known as uveitis.
Uveitis can often begin with no symptoms, and if left undetected or untreated can cause serious complications leading to loss of vision.
JIA affects 10,000 children in the UK and up to 30% are at risk of developing uveitis.
Until now, identifying those at risk of uveitis involves clinical assessments which considers factors such as age of onset, gender, and disease subtype. However this test does not offer the full picture of who is at risk.
Identifying these genetic changes in those with uveitis is therefore crucial as it can add risk information not captured by the assessment.
Professor Lucy Wedderburn explains more:
“This new discovery has the potential to enable clinicians to screen for genetic changes when a young person is first diagnosed with JIA. This would change how we might treat uveitis, such as giving medicine at an earlier stage. This could mean those who develop uveitis are treated quickly, before the disease can irreversibly damage the eye.”
The team focused on a specific set of genes in an area of interest, called the Human Leukocyte Antigen (HLA) region.
Dr Melissa Tordoff, a CLUSTER researcher, explains:
“The HLA region of the genome is an area which is well known to contribute to autoimmune diseases. Many genes in the HLA region code for vital parts of the immune system.
“By looking at the HLA genes in patients with JIA, we found some genetic variants within genes were different in people who had developed uveitis. The frequencies of these variants were different between people with uveitis compared to those people without uveitis.”
Trinity’s story
Trinity was diagnosed with polyarticular JIA just before her third birthday after experiencing pains in her foot which led to her being unable to walk.
She went on to experience uveitis shortly after but thankfully it was identified early enough and treated.
Trinity’s mum, Rebecca, explains:
“Our GOSH consultant advised us to make sure we were seen by our local ophthalmologist urgently. I had to continuously chase for an appointment. Once we were finally seen, I remember the local eye specialist looking at me and saying, ‘Thank goodness you brought her in today – she has uveitis in both eyes.’
“I just think, imagine if we hadn’t had that advice from Great Ormond Street. Imagine if I hadn’t chased it up. Imagine if we had just kept waiting.”
Rebecca was also diagnosed with JIA when she was younger, and Trinity’s dad, Richard, is a CLUSTER Champion.
Rebecca explains why this research is so important:
“This research brings us closer to answering one of the many questions about JIA that have remained for too long. A predictive test for uveitis could enable earlier detection of the condition and closer monitoring. It also gives us insight into what the future holds for our child – and that insight is very important.
“The potential to reduce the burden of hospital visits for those at low risk of uveitis is also huge – appointments often require us to take a whole day out of school/off work and the cost of transport to appointments can really add up too."
Despite some fatigue from JIA, her condition has not stopped Trinity living a full life. She loves horse riding, cricket club, PE and dance – and hopes to be a penguinologist one day.
The test won't be immediately available but work is underway to bring this a step closer.
Dr John Bowes, CLUSTER researcher at the University of Manchester said:
“Our next step is to repeat this analysis in a separate group of patients to provide us with a robust statistical model. Work can then begin to translate these findings into the clinic to improve the screening process for uveitis in children with juvenile idiopathic arthritis.”