Medical Research Council - London Institute of Medical Sciences

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Eye Eye
22 January 2014

Eye Eye

When we see something, it’s because light comes into the eye and hits the back of the eyeball, known as the retina. The most pinpoint sharp region in the retina is called the macula, specialised for detailed tasks such as reading and recognising faces. By studying family trees, scientists have discovered an inherited condition called vitelliform macular dystrophy, or VMD. People with VMD have a build-up of fatty blobs in their macula, seen as the yellow spots in these images of the back of patient’s eyeballs, which eventually causes them to lose their sight. Researchers have now found a new gene fault responsible for VMD. The gene, called IMPG1, makes a protein that helps to stick together the light-sensing cells in the retina. But when it’s faulty, the connections break down and the blobs take over. This discovery provides new insights into VMD and hope for future therapies.

Written by Kat Arney

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