Medical Research Council - London Institute of Medical Sciences

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Genetics in Sight

New marker gene - CLCC1 - found in the genetic eye disease retinitis pigmentosa

14 September 2018

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

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