Moorfields patient Ellie Irwin’s stubborn and debilitating eye inflammation was successfully treated as a result of a new metagenomic service identifying the cause of this as a rare infection.
In 2019, Ellie first got symptoms of uveitis, a condition characterised by inflammation in the eye resulting in blurred vision and sensitivity to light. Having moved down to London in 2020 for work as a doctor, her condition worsened, and she was referred on to Moorfields for specialist care.
"My condition was always a bit of a mystery. I was on increasing amounts of medications to dampen down my immune system; however the inflammation persisted. Steroid drops did seem to make a difference, but I was requiring more and more to keep my condition at bay. From 2022, I was on hourly steroid drops, many other oral medications and a monthly infusion; I was increasingly losing hope."
“By the end of 2023, I was at the point of asking to have my eye removed, all that was stopping me was the fear that it could start affecting my other eye. My condition occupied my thoughts almost every waking hour and it felt truly inescapable. Every morning, I would wake up and check my vision to see whether it was going to be a good or bad day."
"The fact that it only affected one eye meant that Professor Pavesio strongly suspected an infection could be the underlying cause; however all available tests had been negative. I had never heard of metagenomics, but this new test uses genetic sequencing to identify any bacteria or viruses in a sample rather than searching for specific pre-selected targets. Thanks to funding from Moorfields Eye Charity and the incredible work of my clinical team in arranging this test with Great Ormond Street Hospital, I was able to have a sample taken and sent for sequencing."
“The call from my consultant that the test had come back positive was something I never imagined, having had so many negative tests. The metagenomics had found leptospirosis, a rare bacterial infection, in my eye, which was causing all my problems. I most likely contracted this infection whilst travelling in South America. All that was needed was 3 weeks of the right antibiotics and my symptoms drastically improved. I am now off my infusion and all my oral medications, needing only 1 eye drop a day which has completely changed my life.
“I got married a few weeks ago and was able to enjoy the day without thinking about my eye, something I never imagined possible just a few months before.
“The care I received from Carlos and the team was truly incredible. Their kindness, perseverance and expertise has resulted in my right eye being saved. I feel so fortunate to have been treated at Moorfields and will never be able to express my gratitude enough. The work they all do is phenomenal.
She was treated by consultant ophthalmologist Carlos Pavesio, who takes up the story of her care:
“We had tried everything – blood tests, three rounds of tests on samples from the front of her eye for viral, bacterial and fungal infections - but all of these failed to detect anything. She received treatment for the inflammation, but the cause remained a mystery even though we felt it was an infectious process.
“I was aware that this infection could cause inflammation, but had only ever seen this in both eyes, and as one of a number of symptoms. Nobody else in our team had witnessed the behaviour seen in her case - the lack of systemic symptoms made it difficult to even consider it.
“One of our team, Colin Chu, who has strong links with GOSH, mentioned their new metagenomics service. This uses cutting-edge genomic sequencing to identify the bacteria and viruses present in a patient’s sample. It had never been used before in the UK for ophthalmology but, working with the GOSH team, we were able to identify the cause of Ellie’s persistent symptoms as leptospirosis – specifically a strain endemic to South America. This enabled us to treat it and, within a month, Ellie was free of symptoms - and has remained so ever since.
“We are excited about the opportunities this opens up and have already opened a clinical trial on the use of metagenomics for treatment resistant uveitis cases.”
Patients with treatment-resistant eye infections can find out more about the new trial and check their eligibility at ROAM.
Please see the GOSH website to find out more about their metagenomics service.
To watch our interview with Ellie, please click here.
30 April 2025