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

Kat Arney

Writer

Dr Kat Arney is an award-winning science writer, broadcaster and public speaker, and is the founder and Creative Director of First Create The Media.

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• Image courtesy of Christian Hamel
• Institute for Neurosciences of Montpellier, France
• Copyright Elsevier 2013
• Research published in the American Journal of Human Genetics, August 2013