This news might provide people without sight a small ray of hope. Study authors from the University of Leeds seem to have exposed a new gene that may aid in saving the vision of patients with a kind of inherited blindness.
The study team discovered that that the TSPAN12 gene may be defective in patients suffering from a disease called FEVR (Familial Exudative Vitreoretinopathy), which may influence the development of the eye. While several FEVR patients are apparently recorded as blind or visually impaired, members of the same family may have the flawed gene devoid of exhibiting any symptoms.
It is anticipated that by scanning these family members for TSPAN12 mutations, doctors may detect FEVR early on and treat patients prior to losing their eyesight. This may also expand their comprehension of other more general blinding disorders.
Dr Carmel Toomes, of the Leeds Institute of Molecular Medicine who led the study, commented, “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.”
TSPAN12 is believed to be the reason for FEVR by upsetting the cell signals necessary for the standard growth of blood vessels in the retina at the back of the eye.
This study observed around 70 FEVR patients who had apparently tested negative for the three genes already identified to be reason for the disease. Mutations in the TSPAN12 gene, which may be spotted on chromosome 7, could be discovered in around 10% of these patients.
Dr Toomes remarked, “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. 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.”
In addition to being a vital portion in the FEVR problem, this newest detection may aid experts to comprehend other blinding disorders counting age-related macular degeneration and diabetic retinopathy, apparently two of the top reasons for blindness in the developed world.
The study appears in the American Journal of Human Genetics.