To mark Rare Diseases Day 2022, we’re highlighting rare eye conditions, and how one patient, thanks to revolutionary treatment delivered at Moorfields, can now enjoy watching his favourite football team, Newcastle Utd, play again.
Due to a rare inherited eye condition, 25-year-old Jake Ternent had been gradually losing his central vision. But in 2020, he became the first person in the UK to receive a revolutionary new gene therapy that has helped to stop his sight loss.
Interviewed by the BBC last year, Jake said the treatment had stabilised the vision in his right eye, and even reversed some of the decline he had been experiencing prior to the treatment.
"Just being able to see facial features on my own face is something that I haven't been able to do for years," he said.
This year, Jake sent us a video to say thank you to the team at Moorfields and the NHS for his sight saving treatment.
Rare eye conditions
Jake’s condition - Leber congenital amaurosis (LCA) - is caused by having two faulty copies of the RPE65 gene, which is essential for maintaining healthy photoreceptor cells in the retina.
“A range of new genetic therapies are emerging and have the potential to prevent further sight loss or at least slow down the disease progression for a wide number of rare eye conditions, including the Leber congenital amaurosis that has affected Jake,” explains Professor Mariya Moosajee.
“We also have access to the most advanced technologies in the NHS that allow us to reach a genetic diagnosis, which means better access to clinical trials and research that is directly applicable to their condition. With continued research, we hope to see more treatments become available to our patients across the NHS.”
Read more about Jake’s condition, and how the NHS is working to deliver this revolutionary treatment to more patients, in the BBC News article 'Gene Therapy - now I can see my own face again'.
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