MONTREAL October 4, 2006 - Eye Health Month is off to an exciting start, with the recent announcement by MUHC researcher Dr. Robert Koenekoop and his colleagues of a breakthrough discovery in the genetics of childhood blindness. The new study identified the gene most often responsible for LCA (Leber Congenital Amaurosis), the commonest form of congenital blindness. "This discovery represents a significant advance in the fight against this debilitating condition." says Dr. Koenekoop, Director of the McGill Ocular Genetics Centre at the MUHC and Associate Professor in Ophthalmology, Human Genetics at McGill University. He is also principal co-investigator of this study with Dr. Anneke den Hollander, and Dr. Frans Cremers from The University of Nijmegen in the Netherlands.

LCA causes blindness from birth or during the first few months of life. About 600 patients with LCA are currently being diagnosed and managed at the McGill Ocular Genetics Center of the MUHC, directed by Dr. Koenekoop. The disorder affects 1 in 30,000 newborns, and is currently incurable. "This is about to change, however," says Dr. Koenekoop. "Our discovery has major implications for improved screening. It also opens avenues for treatment of LCA."

Discovery of the CEP290 gene and a single mutation found in 20 percent of LCA patients will significantly speed up the genetic testing process for blind children. From a therapeutic viewpoint, this discovery adds another pathway for possible therapeutic manipulation and paves the way for a human gene replacement trial of a related LCA gene (RPE65) in early 2007. If this trial is successful, gene replacement therapy may not be far off.

Prior to Dr. Koenekoop's discovery, LCA had been linked to mutations in eight genes. Together, these mutations account for about 45 percent of cases. By studying members of a Quebec family affected by LCA, Dr. Koenekoop's team, which includes research associate and molecular biologist Dr. Irma
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Contact: Ian Popple
ian.popple@muhc.mcgill.ca
514-843-1560
McGill University
4-Oct-2006