EALING: Scientists researching an inherited vision disorder called achromatopsia, which robs people of color vision and leaves them in a black-and-white world, say they’ve found a previously unknown genetic mutation involved in the disorder.
All over the world there are entire families with this type of vision defect, researchers say, strongly suggesting a genetic root cause that can be passed down from parent to child.
There have been a number of genetic mutations already associated with achromatopsia and its degraded visual acuity and limited or complete lack of color vision, researchers say.
“But we still had families that didn’t have any of those gene mutations,” says Jonathan Lin, an associate professor of pathology at the University of California, San Diego. “We knew this meant there must be other genes and proteins involved.”
Lin is a senior author of a paper describing their search for additional genetic underpinnings of the condition, published in the journal Nature Genetics.
The researchers discovered a mutation in a single gene known as ATF6 caused proteins involved in the functioning of cone photoreceptors in the eye to be damaged.
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