{"id":3597,"date":"2025-04-29T23:06:31","date_gmt":"2025-04-29T23:06:31","guid":{"rendered":"https:\/\/ventil.rs\/blog\/health\/metagenomics-test-saves-womans-sight-after-mystery-infection\/"},"modified":"2025-04-29T23:06:31","modified_gmt":"2025-04-29T23:06:31","slug":"metagenomics-test-saves-womans-sight-after-mystery-infection","status":"publish","type":"post","link":"https:\/\/ventil.rs\/blog\/health\/metagenomics-test-saves-womans-sight-after-mystery-infection\/","title":{"rendered":"Metagenomics test saves woman’s sight after mystery infection"},"content":{"rendered":"


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Fergus Walsh<\/span><\/p>\n

Medical editor<\/span><\/p>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n

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\"BBCBBC<\/span><\/div>\n<\/div>\n

Dr Ellie Irwin’s sight has been saved after a test pinpointed the cause of her long-lasting eye inflammation<\/figcaption><\/p>\n<\/figure>\n
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A 29-year-old doctor from Bristol has had her eyesight saved after a “game-changing” test identified a mystery infection that had plagued her health for five years.<\/p>\n

Ellie Irwin suffered persistent inflammation in her right eye resulting in blurred vision and underwent intensive treatment to no avail. At one point she even considered having her eye removed.<\/p>\n

It was only after Ellie was offered a “last resort” analysis called metagenomics, that she was diagnosed with a rare bacterial infection which was cured with antibiotics.<\/p>\n

“It’s been transformative,” Ellie told the BBC. “I feel so fortunate.”<\/p>\n

Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie’s case is a “breakthrough in the diagnosis of infectious diseases”. <\/p>\n

“There are many patients we treat with chronic infections for years, but despite multiple tests we cannot identify the bug responsible,” he says.<\/p>\n<\/div>\n

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In 2019, while still at medical school, Ellie began suffering from inflammation in her right eye. All tests for infection came back negative and it was assumed she had an autoimmune condition.<\/p>\n

Ellie was prescribed steroid eye drops and immunosuppressants, some of which needed to be given by intravenous infusion.<\/p>\n

“It was completely dominating my life,” Ellie says. “I needed eye drops every single hour and it was difficult to balance that alongside starting work as a junior doctor. My vision was really variable, and I would have some bad days.<\/p>\n

“I was on so much medication and going to so many appointments, yet I didn’t feel I was getting any better.”<\/p>\n

The treatment and inflammation led to Ellie developing a cataract that had to be surgically removed, just after she graduated from medical school.<\/p>\n

Ellie says she eventually reached “breaking point”, and even began considering having her affected eye removed.<\/p>\n

“Whilst losing sight in one eye is terrifying,” she says, “my biggest fear was that it might spread to my left eye.”<\/p>\n<\/div>\n

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\"EllieEllie Irwin<\/span><\/div>\n<\/div>\n

Ellie’s eye developed a cataract that had to be removed<\/figcaption><\/p>\n<\/figure>\n
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It was one of Ellie’s doctors at Southmead Hospital in Bristol who suggested metagenomics – a last resort test not generally available to patients and only used where standard diagnostic tools have failed to identify or rule out infection.<\/p>\n

Metagenomics technology uses cutting-edge genomic sequencing, which can identify all bacteria, fungi or parasites present in a sample by comparing them against a database of millions of pathogens.<\/p>\n

A team at Moorfields Eye Hospital arranged for a sample of fluid to be taken from inside Ellie’s eye and sent to the metagenomics labs at Great Ormond Street Hospital (GOSH) – the only lab in the UK officially recognised to carry out these diagnostic tests for patients, and one of only a few in the world.<\/p>\n<\/div>\n

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Currently, the standard method for detecting bacterial infections is by trying to grow a sample of it in a Petri dish.<\/p>\n

For viruses, the most common diagnostic tool is a PCR test. These will be familiar to many from the pandemic, when millions sent off swabs in the post to confirm whether they had Covid.<\/p>\n

However, Dr Julianne Brown, principal clinical scientist at the GOSH metagenomics service, says PCR has some drawbacks.<\/p>\n

“The trouble with PCR is that you have to think of the viruses that might be causing an infection and do a separate test for each and every one,” she says. “So if you’ve got an infection with something that’s unexpected, rare or not previously known, you won’t find it.”<\/p>\n

Dr Brown says metagenomics is “an enormous step up – it’s a complete game-changer”.<\/p>\n<\/div>\n

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\"EllieEllie Irwin<\/span><\/div>\n<\/div>\n

Doctors believe Ellie’s eye condition was caused by an infection she caught while swimming in the Amazon<\/figcaption><\/p>\n<\/figure>\n
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In Ellie’s case, metagenomics diagnosed a rare strain of the bacterial infection leptospirosis found in South America.<\/p>\n

It is now presumed Ellie picked up the bug swimming in the Amazon river in 2018, while on a trip to Ecuador and Colombia.<\/p>\n

Ellie says it was an emotional moment when she was given the results of the test.<\/p>\n

“I broke down – I just had to cry. I never imagined that it would come back positive and be for something that was treatable,” she says. <\/p>\n

“I was given three weeks of antibiotics and within days my vision was clearer and the inflammation subsided.”<\/p>\n<\/div>\n

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A single metagenomics test costs around \u00a31,300, which is far more than standard diagnostics. However, as the technology is developed that price is likely to fall rapidly.<\/p>\n

Virologist Professor Judy Breuer, who has been developing metagenomics at GOSH and University College London (UCL) for more than a decade, says her team currently receives three or four samples a week from hospitals around the UK for metagenomic testing in addition to those it carries out on its own patients.<\/p>\n

These are often samples from parts of the body that are normally sterile sites, where bacteria are not usually found such as the brain, central nervous system, liver and eye.<\/p>\n

“In the future, we think metagenomics will become a first line test and be able to diagnose infection in any sample, probably within the same day,” she says.<\/p>\n

It’s also likely to become faster, cheaper and easier to do, explains Dr Brown, meaning it will become available to more patients rather than just a small number who are severely unwell.<\/p>\n<\/div>\n

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\"RosieRosie Davison Photography<\/span><\/div>\n<\/div>\n

Ellie got married in March after her eyesight problems had been resolved<\/figcaption><\/p>\n<\/figure>\n
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Resolving her eye problems has allowed Ellie to concentrate on her training as a GP and arrange her wedding. <\/p>\n

Ellie was married in Newcastle on 29 March, the same day the city celebrated Newcastle United’s win in the Carabao Cup.<\/p>\n

She says: “We got a shout-out from Ant and Dec and went up on a scissor lift above the Newcastle United fans, which was incredible.”<\/p>\n

Prof Breuer says she is thrilled with how the treatment is changing lives.<\/p>\n

“It is amazing to see the impact it is having for patients like Ellie.”<\/p>\n<\/div>\n

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Get our flagship newsletter with all the headlines you need to start the day. Sign up here<\/a>.<\/p>\n<\/div>\n<\/div>\n


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Fergus Walsh Medical editor BBC Dr Ellie Irwin’s sight has been saved after a test pinpointed the cause of her long-lasting eye inflammation A 29-year-old doctor from Bristol has had her eyesight saved after a “game-changing” test identified a mystery infection that had plagued her health for five years. Ellie Irwin suffered persistent inflammation in…<\/p>\n

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