New gene tied to profound vision loss

19 January 2015

New research has discovered a gene that is tied to an incurable eye disorder - retinitis pigmentosa.

Led by a team at the University of Texas Health Science Center at Houston (UTHealth), the research focused on a large Louisiana family with vision problems. 

The retina reacts much like a film in a camera by converting images into electrical signals that can be processed by the brain. By damaging the retina, retinitis pigmentosa can cause decreased night vision and peripheral vision even in the early stages. Once it starts, the loss of vision is relentlessly progressive and often results in blindness.

Published in the journal Investigative Ophthalmology & Visual Science, Stephen P. Daiger, professor at  UTHealth, and his colleagues found a new gene tied to retinitis pigmentosa. It means there are now more than 60 genes associated with the sight-threatening disease.

The discovery of the new gene - hexokinase 1 (HK1) - is important as it helps affected families cope with the disorder, as well as explaining the biologic basis of these diseases and potential drug treatments for gene therapy.

Posted by ​Phillip Briggs 


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