3 November 2011
A new gene therapy technique is showing promise as a treatment for the rare genetic disorder, Choroideraemia.
The disease is caused by an inherited faulty REP1 gene. Without a functioning copy of the gene, the eye’s light detecting cells die off. Often diagnosed in childhood, most sufferers will have lost their sight by their 40s.
The experimental technique aims to stop the cells from dying by injecting working copies of the gene into the eye. It is the first time that anyone has tried to correct a genetic defect in the light-sensing cells that line the back of the eye.
Professor Robert MacLaren, who has been treating the patient, says it could be two years before doctors can confirm that the patient’s vision has stopped deteriorating. However, if the gene therapy works, it could be used to treat a wide variety of eye disorders, including the most common form of blindness in the elderly, macular degeneration.