Sufferers of LCA have a faulty version of an enzyme involved in the production of retinol, a chemical found in the cells of the retina and which is necessary for normal sight. People with the condition have severely impaired vision which degenerates with age.
Last year, a team from Moorfields Eye Hospital in London reported that they had begun a gene therapy trial in patients with LCA. A harmless virus was used to insert healthy copies of the mutant gene into retinal cells. The third patient to receive the treatment has now been featured in a BBC news report which details the impact the pioneering treatment has had on his quality of life.
Prior to the treatment, seventeen-year-old Stephen Howarth had almost no night vision and expected eventually to lose his sight entirely. However, several months later, his night vision has improved to the point where he can confidently and safely go out at night. Previously, Stephen could only see bright lights at night, but he can now distinguish road markings and even cracks in the pavement. This new-found freedom has directly improved his quality of life, as it means he can socialise far more with his friends and has reduced the stress of waiting for eventual blindness.
The Moorfields team now hopes to treat children with LCA - with more residual vision left, the researchers hope that the benefits of the new treatment will be even greater in younger patients.
The research is reported in the New England Journal of Medicine.
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