Cure for a Rare Form of Color Blindness Steps Closer with Gene Insight

Researchers have uncovered insights into two genetic mutations that may be a cause of a rare form of color blindness called achromatopsia, and is paving the way for a cure. Achromatopsia is a rare, inherited disorder that affects 1 in 33000 people in the US. This condition is triggered by abnormalities in the retina - a layer of tissue at the back of the eye containing cells that are sensitive to light. People with this disorder will experience partial or total loss of color vision, as well as sensitivity to light, As of right now, there is no cure for achromatopsia, but the use of red - colored lenses reduces the sensitivity to light and also boosts visual functioning. 

Karina Guziewicz, of the School of Veterinary Medicine at the University of Pennsylvania, and colleagues began their study by analyzing the vision of a German Shepherd dog whose owners were concerned about its vision. The team analyzed five genetic mutations that were known to play a part in how light signals are sent from the eye to the brain, a process called phototransduction. As a result, the team identified a mutation in a gene called CNGA3 that was responsible for the dog's vision loss. The team analyzed dogs that had similar symptoms to the German Shepherd, and found a different mutation on the same area of the CNGA3 gene. The team notes that the mutation found in the German Shepherd has been found in humans, so dogs can be a valuable model to study achromatopsia. 

I thought this article was very interesting, I would never have thought to study dogs for this disease. I hope this team, or the many other scientists out there, finds a cure for this disease  as it is harmful. A person with this disease will be sensitive to light, and a absence of color vision. I hope a cure is made in the future to combat this disease.

Link for the article here