Congenital Eye Malformation (CEM)

Eye Malformations can be caused by environmental 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 hypoplasia. In some severe cases, dogs are euthanized due to bilateral changes, aggressivity, 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.

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.