Achromatopsia (ACHM) is a congenital retinal disorder and can vary among affected dogs by severity. The disorder manifests in the poor ability of the eye to distinguish between different shapes and details of objects at a given distance, pendular nystagmus, impaired or complete colour blindness and fear of light (light sensitivity). Loss of vision under well-lit conditions with a complete loss can occur at 8-10 weeks of age. ACHM develops due to genetic defects which results in complete loss of cone function and activity of ion channel which is a key mediator in signal transduction in retinal receptors. The disease has been identified in humans but also in German Shephard and Labrador Retriever. The clinical ophthalmic examination does not necessarily confirm the Achromatopsia, therefore a genetic test needs to be done for disease confirmation.
Inheritance: autosomal recessive - read more
Mutation: CNGA3 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.