By examining a zebrafish, scientists have found the gene that affects the maintenance of cone photoreceptors and visual functions in the eye.
It might be the knowledge that’s been needed to find a treatment for leber congenital amaurosis (LCA).
LCA causes childhood blindness and vision impairments. It’s genetic, and there is currently no cure. Researchers have struggled to understand why the mutation occurs. They haven’t been able to comprehend the illness at a molecular level. Obviously, that’s an understanding that’s needed in order to find a treatment.
It was time to turn to another resource: An animal that has similar retinas to humans.
Zebrafish were chosen as the research subject because they have a plethora of cones in the retina, and they’re easy to examine. Cones and rods are the photoreceptors in the eye that evaluate light. Cones are used by the eye to see things in bright light, and rods are used to see when it’s dim. Someone who has LCA has cones that are deformed, or, they don’t have cones at all.
So what did they find by looking at zebrafish? The gene that provides stability to the cone and rod enzymes. The gene is called Aip1 and, without it, the zebrafish was not able to pass visual information from the eye to the brain.
With this new information, there’s hope that treatment options for LCA patients are around the corner. Now that scientists know exactly which gene is causing the issue, they can start to look at how to specifically fix that gene.