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A potential new treatment for aniridia

 

Canadian researchers may have found a treatment for aniridia, a group of congenital malformations that includes the partial or total absence of the iris.

 

The researchers found that Ataluren, taken in the form of eye drops, restored the vision of mice with this malformation. The anomaly is caused by a genetic mutation that interrupts with the production of a protein essential to eye development. Ataluren seems to short-circuit this mutation, thus restarting the production of the protein.

                                                                                         

At first, the researchers believed that Ataluren would work only during pregnancy in order to prevent the disease from showing up in the fetus. However, they came to see that the drug, administered to two-week-old babies as eye drops, reversed the damage caused by the disease.

                      

“We were amazed to see how malleable the eye is after birth,” said Cheryl Gregory-Evans, associate professor of ophthalmology. “This holds promise for treating other eye conditions caused by nonsense mutations, including some types of macular degeneration. And if it reverses damage in the eye, it raises the possibility of a cure for other congenital disorders.”

 

Source:

http://www.sciencedaily.com/releases/2013/12/131220143230.htm

 

                                                                                                      

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