October 29, 2003.
By Robert Preidt,
Canadian researchers have identified two new gene mutations in two French-Canadian families that have been afflicted with the eye disease retinitis pigmentosa for four generations.
The finding may help in efforts to develop treatment for the disease, which is the most common inherited form of blindness. The report appears in the October issue of the American Journal of Ophthalmology.
The researchers used genetic analysis and ophthalmic evaluations to find the gene mutations in the families. The study demonstrated that the gene mutations resulted in variable and severe forms of retinitis pigmentosa 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," principal investigator Dr. Robert Koenekoop, director of pediatric ophthalmology at Montreal Children's Hospital of McGill University Health Centre, says in a prepared statement.
"Our study will . . . lead to new screening and diagnostic tests" for a devastating and complex disease, he says.
"Many genes, many 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," he adds.
About 1.5 million people worldwide have retinitis pigmentosa. There is no cure. Loss of vision is caused by progressive degeneration and death of the cells that make up the retina, the portion of the eye that responds to light.
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