October 1, 2002.
After years tracking the history of one Nova Scotia family, a team of scientists has isolated the gene linked to a rare eye disease that causes blindness in children and teenagers.
Researchers at the IWK Hospital in Halifax traced the gene for Familial Exudative Vitreoretinopathy, or FEVR. "It's opening a door to new possibilities," Dr. Johane Robitaille, an IWK ophthalmologist, said yesterday. "We have a new tool now that might help in conditions that are fairly common, not just rare eye conditions."
The disorder occurs when blood vessels fail to develop properly in the retina.
Robitaille began her research four years ago after a 6-week-old girl was brought into her clinic suffering from a severe form.
Learning the girl's mother and grandmother also had the disease, Robitaille traced the family roots, and took blood samples from dozens of relatives. Sifting data, she finally focused on one gene known as the frizzled-4.
Her report is published in today's edition of Nature Genetics.
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