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Researchers Working On a Novel Treatment For a Form Of Childhood Blindness

Update Date: Jul 14, 2014 10:58 AM EDT

Researchers have reportedly demonstrated a new oral medication showing remarkable progress in restoring vision to patients with Leber congenital amaurosis (LCA). Up until now, this inherited retinal disease, that causes visual impairment ranging from reduced vision to complete blindness, has remained untreatable. 

"This is the first time that an oral drug has improved the visual function of blind patients with LCA," said 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, in the press release. "It is giving hope to many patients who suffer from this devastating retinal degeneration."

"The drug changed my life," Jörgen, a 44-year-old Swede who was born with LCA, has long dreamed of a treatment for his blindness, said in the press release. "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 considered 14 participants with LCA ranging from 6 to 38 years old. Subjects' blindness was caused by either mutations in the genes RPE65 of LRAT, leading to a serious defect in the retinoid cycle. 

"By giving patients with RPE65 or LRAT mutations an oral retinoid intermediate (QLT091001) most patients' vision improved rapidly. We discovered that a certain portion of the retinal cells that were not working because of the lack of 11-cis retinal could be woken up," explained Dr. Koenekoop. "Contrary to what was previously thought, children with LCA and defects in RPE65 or LRAT are not born with dead retinal cells; the cells can simply go dormant, and they can remain dormant for years before they eventually die. The oral drug we tested awakened these cells and allowed patients to see."

The study is published in the scientific journal The Lancet. 

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