New Gene for LCA Discovered, PNPLA6

DNA double helix

Scientists recently linked a gene they’ve known about for a while to Leber’s Congenital Amaurosis (LCA), one cause of congenital childhood blindness. This gene, PNPLA6, has a mutation that causes photoreceptors in the retina to die. Photoreceptors are the cells that sense light in the eyes.

What makes this amazing is that, once scientists hone in on the specific mutation, they can begin to design treatments and therapies to stop it from happening or to treat it once it does. Understanding the problem puts scientists light years closer to finding a solution, and possibly eradicating at least one cause of childhood blindness.

To figure this out, the team of scientists studied families with congenital LCA, as well as those with Oliver MacFarlane Syndrome (OMS), a rare condition that includes blindness. The scientists were able to work backwards and map the genetic mutation, resulting in the discovery.

The research was funded in part by the Foundation Fighting Blindness. There’s still a long way to go, but this is a giant leap forward.


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