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Boy condemned to blindness has sight restored with gene therapy - giving hope to thousands with failing eyesight
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28 April 2008
Stephen Howarth, 18, had a degenerative condition, caused by a faulty gene, that had damaged the light-detecting retina at the back of his eyes.
He could barely see at night and was told he would probably lose his vision completely.
Surgeons at Moorfields Eye hospital in London injected millions of healthy copies of the gene into one of his eyes to start the retina working properly. He can now see significantly better.
The operation was part of a joint U.S. and British study into Leber's congenital amaurosis (LCA), an inherited disorder which can lead to blindness in teenagers.
It occurs when faulty genes, called RPE65, stop the layer of cells at the back of the eye working. Of the six people who took part in the trial, four had some vision restored.
Each had only one eye treated in case the process went wrong. The success, especially with Mr Howarth, will be a major boost for people with genetic eye problems.
It could lead to advances in the treatment of age-related macular degeneration, which affects around 400,000 people in the UK, although it is not clear if it can help older patients as their eyes may have deteriorated too much.
Mr Howarth, a student from Bolton, said: "At first I could not really see anything in the eye, but it gradually got better until it was back to normal."
The teenager, who plays guitar in a band, said: "Before the operation, I rushed home from college when it started to get dark because I was worried about getting around. Now I stay later if I need to, for band rehearsals and things like that."
He said he can also see the guitar frets better, as well as move around a darkened stage.
The UK trial was carried out by the University College London Institute of Ophthalmology and Moorfields Eye Hospital.
Professor Robin Ali, of the Institute for Ophthalmology, said: "To get this indication after only three patients is hugely exciting.
"It paves the way for the development of gene therapy approaches for a broad range of eye disorders."
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