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EVG, molekularna diagnostika
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SI-2000 Maribor  
Slovenia



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Description

Congenital Stationary Night Blindness is an eye disease with slow retinal degeneration that at first stage causes night blindness. Day vision in affected dogs ranges from normal vision to profound day blindness. The disease has a characteristic clinical phenotype, consisting of profound visual impairment present already at 5-6 weeks of age. Older dogs may show subtle retinal abnormalities indicative of a slowly progressive retinal degenerative process.

 

Inheritance: autosomal recessive - read more

Mutation: RPE65 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: Briard

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

 

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