The cause of a London woman’s recurring uveitis was identified through a pioneering metagenomic service.
Ellie Irwin began experiencing inflammation in one eye in 2019 following a trip to South America the previous summer. Her care was transferred to Moorfields Eye Hospital in 2020 when she moved to London for her work as a doctor.
In 2023, a sample was taken from Irwin’s eye and sent for metagenomic sequencing through a collaboration between Great Ormond Street Hospital (GOSH) and UCL Institute of Ophthalmology.
Moorfields Eye Hospital
Ellie Irwin’s eye before treatment
The testing revealed that Irwin had a strain of the rare bacterial infection, leptospirosis, that is endemic to South America.
Irwin shared that before the testing her condition had been “a bit of a mystery.”
“I was on increasing amounts of medications to dampen down my immune system, however the inflammation persisted,” she said.
By 2022, Irwin was on hourly steroid drops, as well as oral medications and a monthly infusion.
She shared that she was at a point where she was considering asking for the affected eye to be removed.
“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,” Irwin said.
My condition occupied my thoughts almost every waking hour and it felt truly inescapable
Ellie Irwin, patient at Moorfields Eye Hospital
Following identification of the cause of her uveitis, Irwin’s symptoms “drastically improved” with a three-week course of antibiotics.
Irwin has been able to stop her infusions and oral medications, requiring a single daily eye drop.
“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,” she said.
Irwin paid tribute to the care she received from Moorfields Eye Hospital staff.
“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,” she said.
Moorfields Eye Hospital
Ellie Irwin on her wedding day
Moorfields Eye Hospital consultant ophthalmologist, Carlos Pavesio, shared that blood tests as well as previous rounds of sample testing for viral, bacterial and fungal infections had returned negative results.
“She received treatment for the inflammation, but the cause remained a mystery even though we felt an infectious process was still on the cards,” he said.
Irwin’s case is the first time that the metagenomics service has been used within the UK to support the care of an ophthalmology patient.
Professor Judith Breuer, professor of virology at UCL and honorary consultant virologist at GOSH, highlighted that the service has been developed over the past ten years.
“We are now able to offer this vital genomic testing to patients around the country, and it is amazing to see the impact it is already having for patients like Ellie,” she said.