Two genetic mutations responsible for retinitis pigmentosa

After studying two French-Canadian families with a four-generation history of retinitis pigmentosa, researchers at the University of Montreal, Canada, identified two genetic mutations which cause the acute form of the disorder and, in some cases, neurological disorders and the loss of hearing.

A million and a half people throughout the world suffer from retinitis pigmentosa and it is one of the main hereditary factors linked to blindness. Thanks to the new discovery, researchers hope to develop new diagnostic tests that will prevent the disorder and therefore help those families that have suffered from it for generations.

(Source: Assobiotec-Federchimica)