This study, which was funded by The Royal Society and the Wellcome Trust, looked at 70 FEVR patients who had tested negative for the three genes already known to cause the disease. Mutations in the TSPAN12 gene, which is located on chromosome 7, were found in 10% of these patients.

As well as being an important piece in the FEVR puzzle, this latest discovery will help scientists to understand other blinding disorders including age-related macular degeneration and diabetic retinopathy - two of the leading causes of blindness in the developed world.

"Our research highlights how studying rare inherited disorders such as FEVR can help us identify the genes and pathways involved in the basic cellular processes underlying more common diseases," Dr Toomes added.

"We hope that by learning more about blood vessel formation in FEVR we will gain clues that may lead to new treatments for these conditions."

The research will be published in the American Journal of Human Genetics on 12th February.

Source: University of Leeds

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