Most of canine retinal diseases with known causal mutations are rod-cone degenerations also known as progressive retinal atrophies (PRAs), which are characterized by progressive rod-led photoreceptor degeneration that is followed by cone photoreceptor demise. In contrast, cone-rod dystrophies are characterized by the relatively early loss of cone photoreceptors and relative preservation of rod function. Cone-rod dystrophy 2 (cord2 - PRA) is a retinal disease associated with NPHP4 gene in Wirehaired Dachshund. First clinical signs can be detected already at the age of 5 weeks (reduced cone ERG response). Initial ophtalmoscopic changes are usually diagnosed between the age of 10 months to 3 years.
Inheritance: autosomal recessive - read more
Mutation: NPHP4 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.