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Pioneering gene injection restores sight in patients with most common form of inherited blindness

Photo: DevelopmentAfrica.net

By Henry Bodkin

A single injection which restores the sight of people with genetic blindness has been successfully tested for the first time.

Scientists have hailed the results of the world’s first gene therapy trial for blindness after 14 patients with one of the most common inherited forms of the disease experienced “significant” gains or arrested deterioration of their vision.

Oxford University researchers, working with the NHS, injected a virus containing a missing gene into the rear of the eyes of patients suffering from choroideremia.

Of the 12 who received the treatment without suffering any complications, all have demonstrated improved or maintained vision since having the injection, some as long as five years ago.

Among the best results were patients who gained more than one line of vision on the standard eyesight letters chart.

Without the therapy, three quarters of the patients would have been expected to deteriorate over that period of time.

Gene therapy works by altering inherited diseases at the level of DNA and, if successful, a single treatment can have lifelong effects.

The combined NHS University of Oxford and Nightstar gene therapy team CREDIT: TELEGRAPH

Choroideremia is one form of a spectrum of inherited eye diseases known as retinis pigmentosa, which have become the most common cause of untreatable blindness in young people.

It affects approximately 1,200 people in the UK, however the scientists who led the trial have said their success could pave the way for the adoption of gene therapies for blindness more widely.

Published in the journal Nature Medicine, the study has enabled the commencement of a larger trial involving more than 100 patients across Europe and North America, run by the Oxford University spin-out company Nightstar Therapeutics.

Professor Robert MacLaren, the ophthalmologist who led the trial, said: “The early results of vision improvement we saw have been sustained for as long as we have been following up these patients and in several the gene therapy injection was over 5 years ago.

“The trial has made a big difference to their lives.”

Dr Neil Ebenezer, form the charity Fight for Sight, said: “This technique could transform how we treat diseases and could have broad applicability to a range of other conditions.” – Source: The Telegraph

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