Gene mutations associated with nearsightedness

Sunday, May 12 2013 | 00 h 00 min | News

Researchers at Duke University, in North Carolina, are closer to identifying gene mutations associated with severe nearsightedness.

In a paper published in the American Journal of Human Genetics, the researchers singled out mutations in a gene that helps regulate copper and oxygen levels in eye tissue. The mutations predispose carriers to the more severe form of myopia.

“This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered,” said senior author Terri Young. To accomplish this, Young and her team studied families in which this type of myopia was common. They identified mutations in the SCO2 gene found in family members who had myopia, but absent in other family members. They then discovered 4 mutations in this gene in 140 other nearsighted people.

According to Young, these findings suggest that a copper deficiency could predispose people to develop myopia.

Source: http://www.sciencedaily.com/releases/2013/05/130502131710.htm#