It is taken for granted that frames and contact lenses will improve vision in people with myopia, but it has been unclear what genetic factors are behind this common phenomenon. Now, researchers at Duke University School of Medicine have taken another step toward clarifying the issue. According to a study published today in the American Journal of Human Genetics, variants in genes that help regulate the amount of copper and oxygen in eye tissue are associated with high myopia. Myopia is often passed from generation to generation, but little is known about the genetic factors that contribute to this phenomenon. In recent years, researchers have published a number of genes and gene locus associated with myopia and continue to search for additional clues. Terri Young, professor of ophthalmology at the Duke University Eye Center, the Duke University Center for Human Genetics and the Duke University/NUS Graduate School of Medicine, who is the lead author of the study, said, “This is the first time that a genetic variant has been identified that is associated with autosomal dominant non-syndromic high myopia in a Caucasian population. Our findings reflect the hard work and collaboration of our international research team.” Jan and colleagues sought to identify the genetic factors at play by studying family members with high myopia, the report said. They performed deep sequencing of four relatives in a family of 11 members with European ancestry. By analyzing DNA extracted from blood and saliva, the researchers determined that family members with profound myopia all had the SCO2 gene variant, although family members without myopia did not have such a variant. They also found four variants of the SCO2 gene in another 140 people with high myopia. After the researchers identified the variants on the DNA samples, they turned to analyzing human eye tissue and confirmed that the location of SCO2 gene expression in the eye correlated with myopia. The SCO2 gene contributes to copper metabolism in the body, and copper plays an important role in regulating the oxygen content of ocular tissues. Stress exacerbated by high oxygen levels may alter the development and function of the eye. Because normal copper metabolism is important for maintaining eye health, future research efforts may focus on whether copper deficiency increases the risk of developing myopia.