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MUHC researcher unveils novel treatment for a form of childhood blindness
Date:7/13/2014

This news release is available in French.

Montreal, July 13, 2014 An international research project, led by the Research Institute of the McGill University Health Centre (RI-MUHC) in Montreal, reports that a new oral medication is showing significant progress in restoring vision to patients with Leber congenital amaurosis (LCA). Until now, this inherited retinal disease that causes visual impairment ranging from reduced vision to complete blindness, has remained untreatable. The study is published today in the scientific journal The Lancet.

"This is the first time that an oral drug has improved the visual function of blind patients with LCA," says the study's lead author, Dr. Robert Koenekoop, who is director of the McGill Ocular Genetics Laboratory at The Montreal Children's Hospital of the MUHC, and a Professor of Human Genetics, Paediatric Surgery and Ophthalmology at McGill University. "It is giving hope to many patients who suffer from this devastating retinal degeneration."

Jrgen, a 44-year-old Swede who was born with LCA, has long dreamed of a treatment for his blindness. He was enrolled in the MUHC study, along with others from North America, Europe, China and Brazil, and showed the most significant improvements of all the participants. "The drug changed my life," he says. "My visual acuity and visual field increased significantly. I can now go by myself into a shopping center or to the airport and even take the metro, which were unthinkable for me before. I hope many people can access the drug in a near future."

The study involved 14 participants from around the world with LCA ranging in age from 6 to 38 years old. Their blindness was caused by either mutations in the genes RPE65 or LRAT, leading to a serious defect in the retinoid cyc
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Contact: Julie Robert
public.affairs@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
Source:Eurekalert  

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