Achromatopsia is a condition that affects humans and animals alike. Like many genetic conditions, achromatopsia does not have a known cure. However, an accurate diagnosis can help pet owners understand what their animals may be struggling with and how to support them.
Achromatopsia in People
Achromatopsia is an autosomal recessively inherited, non-progressive genetic condition affecting the retinal cones. The disorder is characterized by the absence of color vision, decreased vision, light sensitivity, and nystagmus (involuntary back-and-forth movement of the eyes). For humans, several genes (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) can be responsible for this condition.
There are two main types of Achromatopsia: Complete Achromatopsia and Partial (or Incomplete) Achromatopsia. As the names suggest, people with Complete Achromatopsia have no functioning cones in their retinas. For those with Incomplete Achromatopsia, only some of the cones are affected, so they can see some, but not all, colors rather than being completely colorblind.
Achromatopsia in Dogs
While dogs naturally see far fewer colors than humans already, Achromatopsia can still affect them. The cones responsible for seeing color are also needed to take in brighter lights (as opposed to rods, which perceive lower light). When dogs have no (or fewer) functioning cones, they can be extremely sensitive to light and have trouble seeing in bright situations.
Unlike in humans, where a number of different genes can contribute to Achromatopsia, a single gene (CNGA3) is responsible for its development in dogs.
Signs of Achromatopsia
Unlike people, pets don’t have the ability to articulate what they’re seeing. Thankfully, there are a number of initiators that Achromatopsia may be present. Nystagmus, the back-and-forth movement of the eyes that humans with this condition have, applies to dogs as well. Likewise, unusual sensitivity to light or Photophobia can suggest that a dog may be struggling with perception.
While recognizing signs like these is an important part of diagnosing conditions like Achromatopsia, testing for the CNGA3 gene is the only truly reliable way to determine whether or not your pet has this condition.
Testing for Achromatopsia
As with any genetic disease, understanding what you’re up against is key to managing the condition. Genetic testing can let you know what risks your dog has, both from birth and as they age, giving you a chance to take preventative measures when possible.
Because of its autosomal recessive nature, breeders can ensure that Achromatopsia is not passed on by selective breeding. Testing for this (and other genetic factors) is far more accessible today than ever before, and testing kits for breeders, owners, and vets can help you fully understand your dogs.
No matter what your concerns are, having your dog tested is absolutely essential to ensuring that you can provide them with the best possible care throughout their lives.
Be Prepared with Orivet
A leader in genetic testing for dogs and cats, Orivet offers a range of genetic services to owners, breeders, and veterinarians, including screening of genetic diseases, coat colors, traits, parentage confirmation, and much more. Whether you’re a first-time pet owner or a seasoned breeder, Orivet’s at-home testing kits provide a surefire way to better understand your dog’s breeding and lifestyle needs.
To learn more and see the full range of available testing kits, head to orivet.com.