Retinoschisis – a genetic disorder that affects up to one in 5,000 individuals, primarily young men – is characterised by the abnormal splitting of the retina's sensory layers.
The condition, linked to a defective gene on the X-chromosome which can be passed on to males by their unaffected mothers, has no cure and treatment is limited to restricting further splitting of the layers to preserve some eye function.
But a cross-disciplinary team of researchers at The University of Manchester now plans to investigate the molecular mechanisms behind the disease in the hope of finding a cure.
"The retina is made up of thin layers of cells at the back of the eyeball responsible for converting light into nervous signals," said Professor Neil Bulleid, who is based in the Faculty of Life Sciences.
"Retinoschisis causes these layers to split resulting in blistering and in some cases parts of the retina can become detached.
"At present there is no cure for the condition but if we can understand the molecular basis of the disease then we can look at the potential of new treatments."
The three-year study – funded by the Medical Research Council – will build on research by Professor Bulleid's collaborator in the project, Professor Dorothy Trump, in the University's School of Medicine.
Professor Trump's group has analysed gene faults associated with the disease which has led to the development of an NHS diagnostic test to identify the genetic risks of the disease being passed from mother to son.
She said: "Our understanding of the molecular basis for genetic eye disease has progressed significantly over recent years with the identification of many causative genes.
"It is hoped that this will help us move towards improved diagnosis and effective therapy in the future."
Professor Bulleid added: "By the end of our research we hope to have a good idea of exactly what causes retinoschisis and have a better understanding of how to treat it."
Last reviewed: By John M. Grohol, Psy.D. on 21 Feb 2009
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