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PAX6 gene may play role in myopia, twin study finds

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The PAX6 gene, already known as the genetic cause for aniridia, is “strongly linked to the development of myopia,” according to a British study of twins.

Chris Hammond, MD, and colleagues at St Thomas’ Hospital in London analyzed the genomes of 506 pairs of twins and concluded that susceptibility to myopia in the population they studied was predominantly due to genetics rather than environment. A genomewide scan of 221 twins showed a significant link to refractive error at four loci, the largest of which was in the PAX6 gene region.

“Changes in lifestyle, which mean that we spend far more focusing on close objects such as computer screens, mobile phones and books, are clearly a factor,” Dr. Hammond said in a press release from the hospital. “Our study now suggests these lifestyle factors may only have a major effect on genetically susceptible people.”

The study is published in the August issue of The American Journal of Human Genetics.