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."
Koenekoop in collaboration with MUHC geneticist, Dr. Guy Rouleau, examined two very large French-Canadian families afflicted with retinitis pigmentosa for four generations. Ophthalmic evaluations and genetic analysis were used to characterize the gene mutations and the resulting phenotype. They demonstrated that these mutations resulted in variable, severe forms of the disease and in some cases other neurological disorders, such as hearing loss.
"Our findings show that different gene mutations result in different symptoms of the disease," says Rouleau. "Our study will provide hope to those families who have suffered from this disease for gener
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Contact: Christine Zeindler
christine.zeindler@muhc.mcgill.ca
514-934-1934
McGill University
8-Oct-2003