Researchers Are Getting Closer to the Cure of A Rare Form of Color Blindness

     A new study from PLOS ONE provides an exciting breakthrough in two genetic mutations that could be the cause of achromatopsia, a rare form of color blindness. This breakthrough could possibly lead to the cure. If affected by this rare disorder, one would become partially or completely color blind and also experience light sensitivity, a result from abnormalities in the retina. The closest thing we have to a cure are red-colored lenses that are able to reduce light sensitivity and aide visual functioning.

The study, most recently done at Temple University and the University of Pennsylvania, uses animal models. This study in particular was in a German shepherd dog that showed the human chromatopsia mutation in it’s CNGA3 gene. Gustavo Aguirre, a professor and coauthor of the study stated, “The song displayed a classical loss of cone vision; it could not see well in daylight but had no problem in dim light conditions,” after studies to identify which genetic mutations caused this vision loss, the researchers could not find the one that caused the poor pup’s loss of vision. 

The team pressed on and studied five genetic mutations that are known variables in phototransduction. They were able to identify a gene mutation in CNGA3 that was responsbile for the dog’s vision loss. Labrador retrievers were also studied and had similar symptoms to the German Shepherd, this is the first of these mutations being identified in dogs, but not in humans, which makes them great models to study human achromatopsia.

The team then identified small changes in protein sequences from a supercomputer where they learned that the two mutations in the CNGA3 affected the cyclic nucleotide channel function. 

Researchers say this provides new information and steps leading to a possible gene therapy to cure this condition in both dogs and humans!! 
I think it's really cool we are able to study a condition in dogs that also affects humans, you don't see that everyday!

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