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Eye Injection Proves to Be Effective Against Blindness for the Third Time in History

Update Date: Mar 19, 2013 01:36 PM EDT
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People who suffer from a genetic history of eye disease might have an answer for their degenerating eye condition. This new form of gene therapy, which requires an injection of a virus into the eyes is still in the early trial stages but has already shown positive results in three patients. The latest patient, Nick Tuftnell, a 36-year-old IT consultant from Bristol, UK, is currently recovering from this operation and hopes to keep his vision for many years to come.

Tuftnell suffers from choroideremia, which is a degenerative genetic eye disease. The eye disease occurs when the choroid, a layer of blood vessels responsible for supplying the retina with oxygen and nutrients, slowly dies and consequently blocks the oxygen and nutrient supply to the retinal cells. The retina is the light sensitive layer found at the back of the eye that helps enable vision. The blockage kills the retinal cells and causes tunnel vision and eventually blindness usually by the age of 40.

Tuftnell found out that the disease has progressed slightly faster in him than his grandfather, something the he was not expecting. By the age of 24, Tuftnell's doctor stated that he could not drive since his peripheral vision had already deteriorated. After losing more and more of his peripheral and central vision, Tuftnell enrolled in the world's first trial aimed for treating choroideremia.

The trial was a surgery in which the healthy version of the gene that causes the disease would be injected into the back of the retina. The gene material would be carried in the form of a tiny virus, which was genetically manufactured by researchers, and once injected, would ideally stop the cells from dying and ultimately help them regenerate, stopping the loss of vision. Since the experiment is invasive, Tuftnell only received the surgery, which separated the retina from the optic nerve during the injection process, in the left eye. The 90-minute operation proved to be successful so far. It has been a year since the surgery and Tuftnell noticed that his vision has significantly improved.

The surgeon behind the operation is Robert MacLaren, a professor of ophthalmology from the University of Oxford and is a consultant ophthalmologist at the Oxford Eye Hospital. The research in finding a cure for choroideremia started after a concerned mother, Emma Salisbury wanted to help her son keep his eyesight. Due to her persistence and funding from the Fight for Sight Charity, Professor Miguel Seabra from the Imperial College London was able to analyze the role of the defective gene responsible for the disease. Seabra and MacLaren found that a virus can be engineered to carry the healthy version of the gene and reintroduced into the body. The virus has not caused any other diseases as of yet.

However, since the trial is still very new, Tuftnell is content with one good eye and has decided to wait for the surgery in his right eye after more results. In the meantime, Tuftnell enjoys the vision he got back and plans on spending more time outside with his son.

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