Yorkshire scientists' discovery offers hope to victims of inherited blindness

An international team, led by researchers at Leeds University, has uncovered a gene they believe could help to save the sight of patients with a condition affecting the development of the eye.

They found a gene known as TSPAN12 is faulty in patients with a disease known as Familial Exudative Vitreoretinopathy (FEVR). Many are registered blind or visually impaired but family members can carry the faulty gene without showing any symptoms.

Experts hope by screening these relatives for gene mutations, doctors may be able to catch the condition early and treat patients before they start losing their sight.

The work will broaden understanding of other more common sight disorders including age-related macular degeneration and diabetic retinopathy – two of the leading causes of blindness in the developed world.

Carmel Toomes, of the Leeds Institute of Molecular Medicine, who led the research, said: "This discovery will have an immediate impact on the treatment and counselling of some FEVR patients by allowing us to identify family members who carry the mutated gene before any retinal damage has occurred. This decreases their chances of going blind because if a patient is diagnosed early enough their sight can often be saved by surgical intervention."

The study, 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 gene were found in 10 per cent of these patients.

Dr Toomes said the research highlighted how studying rare inherited disorders could help to identify routes involved in more common diseases.

The research is published in the American Journal of Human Genetics.