Congenital Eye Malformations (CEM) can be caused by enviromental or genetic factors. A new form of CEM has been observed in Golden Retrievers with clinical signs including unilateral or bilateral retina dysplasia and/or optic nerve hyploplasia. In some severe cases dogs are euthanized due to bilateral changes, agressivity or some other severe clinical signs. A mutation in SIX6 gene has been observed in Golden Retrievers with CEM, suggesting a strong connection between the gene and the disease since this gene produces a transcription factor with a known role in eye development. Use the best DNA tests for dogs to early on discover this hereditary disease.
Inheritance: Autosomal dominant with incomplete penetrance
Mutation: SIX6 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.
Sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.