Researchers have uncovered a new link between achromatopsia, a rare form of colour blindness, and ATF6, a gene which is expressed in cells throughout the body and involved in maintaining the activity of the cell’s protein production.
Achromatopsia affects an estimated one in 30,000 people worldwide. Patients with the condition may be completely colour blind and have poor visual acuity. They also exhibit increased sensitivity to light and may have uncontrolled eye movements (nystagmus). Although there is no effective treatment, light-filtering spectacles or red-tinted contact lenses may help alleviate the patient’s discomfort.
Eighteen patients from 10 families with achromatopsia were studied by an international research group and all were found to have faults in the same gene, ATF6.
Professor Michel Michaelides, a consultant at Moorfields Hospital and one of the UK geneticists on the study, said: “Our findings show that, despite its ubiquitous role in the body, mutations in ATF6 can lead to isolated disease within the retina… This study advances our understanding of the underlying molecular genetic basis of achromatopsia and sheds light on macular developmental biology.”
It is hoped that the findings will open up new avenues for gene-therapies to treat patients with the condition.
The paper is published in Nature Genetics.
