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Grant received for eye disorder research

Researchers at the Peninsula Medical School in Plymouth and Exeter have received a grant of 9,600 from the Northcott Devon Medical Foundation to continue its research into the genetic causes of eye movement disorders.

Last year, the team along with colleagues from the Children's Hospital in Boston (USA) and King's College London - identified a gene that, when mutated, causes Duane syndrome.

Duane syndrome is a congenital eye movement disorder that causes eye muscles to contract and relax when they should not. It develops in the womb where it affects nerve growth in the eye. Sufferers of the syndrome have limited eye movement sideways towards the ear or nose. When the eye moves towards the nose the eyeball pulls into the socket, closing the eyelids and sometimes forcing the eye movement up or down.

Duane syndrome usually causes vision problems. It can be accompanied by malformations of the skeleton, eyes, ears, kidneys and nervous system but more commonly occurs in isolation.

Most sufferers of the condition are diagnosed by the age of 10. It is more prevalent in women and in the left eye. It is believed to affect around half a million people worldwide.

Last year's study identified the possibility that other genes could also contribute to loss of eye movement, and the new grant monies will help to fund more research to identify these genes.

Dr. John Chilton from the Peninsula Medical School commented: "Work carried out in our labs has shown that interfering with the function of other genes produces the same mis-wiring of the eye muscles. We will use the funding from the Northcott Devon Medical Foundation to go back to our patient samples and see if they harbour mutations in these, or closely-related, genes. The work is a collaboration between my lab in Plymouth and those of Dr. Nick Gutowski and Professor Sian Ellard in Exeter, and we are grateful to the Northcott Devon Medical Foundation for its valuable contribution."


Contact: Andrew Gould
The Peninsula College of Medicine and Dentistry

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