Genetics in Sight

What can you see at the very edges of your vision, beyond these beautiful images on your screen? This peripheral vision is the first thing lost by people with retinitis pigmentosa, a genetic disease with no cure that can result in a total blindness. Identifying the genes involved is a step towards improving patients’ prospects, and a new study found that eight families with RP sufferers all shared a particular version of a gene called CLCC1. Usually, this gene produces a ubiquitous protein in cells around the body. But when it’s distorted, eye cells don’t develop quite as they should, as shown by the affected zebrafish eye sections (right) compared to healthy ones (left). Highlighted in red are rod (bottom) and cone (top) cells which are crucial to vision and depleted in RP patients. CLCC1 presents a new marker to diagnose patients, and maybe a path to new potential treatments.

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 Lin Li, Xiaodong Jiao and Ilaria D’Atri, and colleagues
• RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, UK; National Centre of Excellence in Molecular Biology, University of the Punjab, Pakistan; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, MD, USA
• Image originally published under a Creative Commons Licence (BY 4.0)
• Published in PLOS Genetics, August 2018