Achromatopsia is a hereditary disease characterized by the loss of cone photoreceptor function that results in day-blindness, complete color blindness and decreased central visual acuity. The clinical signs typically manifest by 8–12 weeks of age when retinal development is completed. Cones develop normally but after a time they gradually deteriorate which cause a slow loss of cones throughout the animal’s lifetime. The rod photoreceptors remain intact. However, affected dogs remain ophthalmoscopically normal. Affected dogs become increasingly photophobic when exposed to bright light. Vision in low light conditions remains normal. Please note that there are several forms of this disease in different breeds and with this genetic test cone degeneration can be explained just in a few selected breeds.

Inheritance: autosomal recessive - read more

Mutation: CNGB3 gene

Genetic test: The method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. Testing can be done at any age.

Disease control: read more

Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.