Cirneco oculo-neurological syndrome (CONS) is an autosomal recessive disorder characterized by retinal and neurological manifestations. The clinical signs of affected dogs include degeneration of retinal photoreceptors causing a loss of sight, along with paroxysmal neurological episodes consisting of head tremors and involuntary movements of one of the front limbs. The episodes are sporadic and described as either atypical seizures or paroxysmal dyskinesias. The retinal abnormalities are typically detected around 4 years of age, meanwhile the neurological abnormalities are likely to be present much earlier, at around 2–2.5 years of age.

Inheritance: autosomal recessive - read more

Mutation: AMPD2 gene

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

Disease control: read more

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