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New Treatment Reverses Inheritable Eye Disease in Mice

Update Date: Dec 20, 2013 05:34 PM EST
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Scientists have developed a new treatment to reverse damage done by an inheritable eye disease.

Congenital aniridia is a progressive disease that is characterized by improper development of eye structures as well as abnormalities in the brain and pancreas.

While many nonsense mutations in the PAX6 gene are linked with aniridia, researchers said there are few treatment and prevention strategies available.

Lead researcher Cheryl Gregory-Evans and colleagues at the University of British Columbia studied a small molecule nonsense suppression strategy for relief of aniridia-associated defects in a mouse model of the disease. They were able to develop a formulation of the nonsense suppression drug ataluren that could be administered topically to postnatal aniridia mice.

They found that the drug helps inhibit disease progression, reverse eye abnormalities and restored eye function in mice models.

José-Alain Sahel and Katia Marazova of the Institut de la Vision wrote in an accompanying commentary recommend additional studies to see if the ataluren-based formulation could be used to treat other congenital eye defects associated with nonsense mutations.

The findings are published in the Journal of Clinical Investigation.

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