Gene causing congenital blindness identified

Scientists have found a new gene that can cause congenital blindness.

Congenital blindness is a kind of autosomal recessive inherited retinal degenerative disease. About 70 percent of the cases are caused by the mutation of one of the 17 disease-causing genes which have already been discovered, while the causes of the rest 30 percent have not been found yet.

After studying cases where the cause of disease was still unknown, the researchers, led by Qi Ming, a professor with Zhejiang University, concluded that a gene called "NMNAT1" is a disease-causing gene for the congenital eye disease.

The research team is made up of scientists from countries including China, the United States, Brazil, Canada and Australia.

The NMNAT1 gene can protect the light receptor cells in the retina and is also of great importance for the nerve cells and the heart, kidney and liver tissue in human body.

The mutation of the gene can cause a kind of congenital blindness called the Leber congenital amaurosis (LCA), Qi said, adding that the mutation of NMNAT1 also harms the patients  nerves and some organs.