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EVG, molekularna diagnostika
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Description

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: Disease or carrier can be identified by genetic testing at any age. The PCR method used for testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs.

Disease control: read more

Affected breeds: Standard wire-haired dachshund

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

 

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