Researchers at University of California San Diego have identified a gene mutation responsible for achromatopsia, a disorder where malformed proteins in the retina’s cone photoreceptors restrict patients to viewing the world in black and white. Patients suffering from achromatopsia also experience reduced visual acuity and sensitivity to bright light, requiring tinted lenses indoors and outdoors, and in severe cases are legally blind.
Congenital achromatopsia is an uncommon inherited disorder that can afflict entire families. There are five genetic mutations known to cause achromatopsia, though cases arose where none of the known mutations were present, leading scientists to suspect that other genes were involved. The research team analyzed the gene sequences of 18 patients from 10 different families that lacked the previously discovered mutations and discovered that all 18 patients had a mutation in the ATF6 gene.
Dr. Jonathan Lin, senior author of the study, said this finding offered the possibility of treating achromatopsia, which currently has no cure, through gene therapy. The ATF6 mutation may be related to other dysfunctions of the cone receptor, such as macular degeneration and retinitis pigmentosa.
Further Information: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3319.html
