20.05.2016

Blindness gene uncovered

Blindness gene uncovered

The creation of a cure for blindness has taken a step forward after experts in the US were able to identify cover elusive gene that causes a form of blindness from birth.

Scientists from the Massachusetts Eye and Ear Infirmary have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but damaging form of early-onset blindness.

The new LCA gene is called NMNAT1 and is hugely important, as scientists believe that finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

The study was carried out in collaboration with experts from the Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators and published in the online edition of Nature Genetics.

In it, experts screened 284 unrelated patients with LCA from the United States, England, France and India and found 13 patients with mutations in NMNAT1 as the cause of their disease.

The experts found that all but the youngest patient with NMNAT1 mutations had damage to the macula, the centre of the retina that is needed for central vision.

"This four-year-old girl who doesn't have central vision loss yet can possibly benefit substantially if we can devise a therapy for her NMNAT1-mediated LCA that prevents her from developing severe central vision loss," explained Dr Eric Pierce, co-senior author and director of the Ocular Genomics Institute at Massachusetts Eye and Ear.

He noted that the immediate benefit of the discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition.

"Scientists now have another piece to the puzzle as to why some children are born with LCA and decreased vision. The long-term goal of our research is to develop therapies to limit or prevent vision loss from these disorders," he added.ADNFCR-1853-ID-801418176-ADNFCR


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