San Diego researchers have helped pinpoint a gene underlying a rare eye disorder that causes patients to see the world in black and white.
Color-sensing cone cells in the eye are disabled in patients suffering from the disorder, called achromatopsia. Many can only see black, white and shades of grey.
"Their color vision is non-functional," said UC San Diego researcher Jonathan Lin, senior author of a new study published in Nature Genetics identifying a new gene mutation underlying achromatopsia.
"It hurts their quality of life," Lin said. "So many things we take for granted, like driving and reading and the ability to perform different kinds of work, require people to be able to see color and to see things clearly."
Scientists have already identified a handful of genetic mutations that can lead to this disorder. But many patients don't have any of the known mutations.
In their new study, Lin and his colleagues from around the world sequenced genes from patients without any of the previously known mutations. They discovered 18 patients who all shared mutations in a gene called ATF6.
"We're very enthusiastic about educating the public and especially people who have this vision problem about this new mutation," Lin said. "It might be something that they can get tested for."
Lin said this specific gene mutation probably accounts for only one percent of all achromatopsia cases, making it a rare cause of the disorder.
Lin and his colleagues validated the connection between this gene mutation and vision problems by studying mice genetically engineered with ATF6 mutations. They noticed that as the mice aged, they developed vision impairments similar to humans with achromatopsia.
