An experimental drug that corrects genetic mutations can cure aniridia (absence of the iris) in mice.

Aniridia is a congenital eye disease that affects about 5,000 people in North America and can lead to severe visual impairment..

Dr. Cheryl Gregory-Evans of the University of British Columbia in Vancouver and colleagues have created eye drops with ataluren, a unique substance currently being tested in patients with cystic fibrosis and Duchenne muscular dystrophy..

They gave these drops to 2-week-old mice with aniridia caused by a mutation in the PAX6 gene..

As reported in the Journal of Clinical Investigation, this treatment restored impaired protein synthesis and reversed congenital eye disease..

The researchers hope to conduct a study early next year with 30 children and adolescents from Canada, the US and the UK..

They do not expect the treatment to be effective in adults with this disease as they develop significant eye changes with age..

“The new treatment is promising for other eye diseases caused by genetic mutations, including some types of retinal dystrophy.. And if it reverses damage to the eye, it will give all of us hope for a cure for other congenital diseases as well,” writes Dr. Gregory-Evans..

medbe. en.