
A potential cure for a rare eye disease has been developed by University of British Columbia and Vancouver Coastal Health scientists. They have shown for the first time that a drug can repair a birth defect.
They formulated the drug Ataluren into eye drops, and found that it consistently restored normal vision in mice who had aniridia (ANN-uh-ridee-uh), a condition that severely limits the vision of about 5,000 people in North America. A small clinical trial with children and teens is expected to begin next year in Vancouver, the U.S. and the U.K.
Aniridia is caused by the presence of a "nonsense mutation" - an extra "stop sign" on the gene that interrupts production of a protein crucial for eye development. Aniridia patients don't have an iris (the coloured ring around the pupil), and suffer many other eye abnormalities.
Source: Eurekalert
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