People with achromatopsia, an inherited eye disorder, see the world literally in black and white. Worse yet, their extreme sensitivity to light makes them nearly blind in bright sunlight. Now, researchers at University of California (UC), San Diego School of Medicine and the Shiley Eye Institute at UC San Diego Health System have identified a previously unknown gene mutation that underlies this disorder, as do five other previously known gene mutations. The study was published online on June 1, 2015 in Nature Genetics. The article is titled “Mutations in the Unfolded Protein Response Regulator ATF6 Cause the Cone Dysfunction Disorder Achromatopsia.” "There are whole families with this sort of vision problem all over the world," said Jonathan Lin, M.D., Ph.D., senior study author and an Associate Professor in the UC San Diego School of Medicine Department of Pathology. "We're very excited to have discovered a mutation in the ATF6 (activating transcription factor 6) gene which plays a major role in this disorder." As noted, five other genetic mutations have previously been identified by research groups as pivotal in achromatopsia, which causes markedly reduced visual acuity and very poor or no color vision. "But we still had families that didn't have any of those gene mutations," said Dr. Lin, also a researcher at the UC San Diego Shiley Eye Institute. "We knew this meant there must be other genes and proteins involved." The current study, which involved an international collaboration of inherited retinal disease specialists, found that a mutation in the ATF6 gene damaged proteins necessary for proper function of the eye's cone photoreceptors. The eye has millions of these receptors, which control color recognition and daytime vision.
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