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

Anthony Lewis

Writer

Ant was the web editor in the early days of BPoD, and has since worked with the UK’s top science organisations as a writer and multimedia producer. He now splits his time between freelance work and managing multimedia at The Lancet.

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• Image from work by Elliot H. Choi and Susie Suh, and colleagues
• Gavin Herbert Eye Institute, Department of Ophthalmology, University of California, Irvine, CA, USA
• Image originally published with a Creative Commons Attribution 4.0 International (CC BY 4.0)
• Published in Nature Communications, April 2022