EVG, molekularna diagnostika
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SI-2000 Maribor  

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Progressive retinal atrophy (PRA) in dogs is a group of genetically heterogeneous inherited retinal disorders characterized by progressive degeneration and cell death of photoreceptor. Progressive retinal atrophy 1 in Papillons and Phalenes is an autosomal recessive  PRA. Affected dogs have a primary loss of the rod photoreceptor cells, followed by loss of cone cell function. The first clinical signs are seen as difficulties in the dim light. The disease progress very slowly and the affected dogs seem to be visually normal throughout their life, as the cone function is fairly well preserved.


Inheritance: autosomal recessive- read more

Mutation: CNGB1 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: Papillon and Phalen.

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


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