Treatment for the most common inherited cause of blindness, retinitis pigmentosa, is one step closer, according to investigators at the Research Institute of the McGill University Health Centre (MUHC). They are the first to link two new gene mutations in two French-Canadian families to loss of vision in humans. Their findings are published in this months issue of the American Journal of Ophthalmology. This project was funded by the Canadian Institutes of Health Research (CIHR), le Fonds de la recherche en santé du Québec (FRSQ) and the Foundation Fighting Blindness - Canada.
Approximately 1.5 million people worldwide are affected by retinitis pigmentosa, which at the moment has no cure. This disease causes vision loss by progressive degeneration and death of the cells that make up the retina, the portion of the eye that responds to light.
"Retinitis pigmentosa is a devastating and complex disease," says principal investigator, Dr. Robert Koenekoop, director of pediatric ophthalmology at the Montreal Children’s Hospital of the MUHC. “Many genes, gene mutations and symptoms are involved. The first steps to developing a treatment are the characterization of all these factors. Important progress has been made by identifying two important gene mutations present in the French-Canadian population.”
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