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Precision Vision

Gene editing as a potential treatment for blindness-causing inherited retinal degeneration

26 May 2022

Precision Vision

A small smudge on your glasses can mask your whole vision. And a small mutation in your DNA can destroy it entirely. Leber congenital amaurosis (LCA) is the most common cause of inherited retinal degeneration in children, which leads to visual impairment through accelerated decline of eye cells called cone photoreceptors. Researchers have used base editing – a novel technique that targets a single point in our DNA – to directly counter the mutation behind the disease. In mice with LCA, the treatment aimed to both compensate for the missing action of the mutated gene and guard against further damage. The technique increased the functional activity of the gene, boosting visual function and protecting the cells (pictured in a treated mouse, cone cells in green and a protein crucial for healthy activity in pink). If the approach translates to humans, a single lasting treatment for inherited retinal degeneration could be in sight.

Written by Anthony Lewis

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BPoD stands for Biomedical Picture of the Day. Managed by the MRC Laboratory of Medical Sciences until Jul 2023, it is now run independently by a dedicated team of scientists and writers. The website aims to engage everyone, young and old, in the wonders of biology, and its influence on medicine. The ever-growing archive of more than 4000 research images documents over a decade of progress. Explore the collection and see what you discover. Images are kindly provided for inclusion on this website through the generosity of scientists across the globe.

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