How a newly-discovered gene affects myopia

New York-Researchers at Columbia University Medical Center recently discovered a gene that causes myopia in people who spend a lot of time reading or doing other “nearwork” throughout their childhood. The study was published in PLOS Genetics.

The researchers utilized a database of approximately 14,000 people and found those with a specific variant of a gene called APLP2 were five times more likely to develop myopia in their teens if they read one or more hours per day in their childhood. Those who carried the APLP2 risk variant but spent less time reading had no additional risk of developing myopia.

“We have known for decades that myopia is caused by genes and their interactions with environmental factors like reading and nearwork, but we have not had hard proof,” says the study’s lead investigator, Andrei Tkatchenko, MD, PhD. “This is the first known evidence of gene-environment interaction in myopia.”

Optometry Times Chief Optometric Editor Ernie Bowling, OD, FAAO, says the study is a really good step for myopia research.

“It’s been known for some time that myopia is influenced by genetics, but this study, like the author says, is the first that shows both genetics and environment can influence myopia,” he says. “And the increase in the number of myopes is steadily rising as noted in the paper.”

“There are some big grains of salt that we need to keep in mind. This study wants to be more impactful than what’s really there,” says Donald O. Mutti, OD, PhD, E.F. Wildermuth Foundation Professor in Optometry at The Ohio State College of Optometry. “They’ve certainly gotten an interesting gene here, but it doesn’t solve the problem at all.”

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