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EVG, molekularna diagnostika
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Slovenia



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Description

Collie eye anomaly (CEA, Choroidal Hypoplasia-CH) is a hereditary eye disease in dogs, characterized by different level of impairment of the retina and choroid sclera that occurs during development of the eye. The inheritable disease is not progressive and the state after eye development remains stable. For this disease no drugs exist and it cannot be treated. The main symptom in affected dogs is hypoplasia (under development) of choroid, which is an important layer of the eye under the retina. In dogs with more extensive CEA disease the hypoplasia of retina or coloboma development may occur. The extent of this disease is different in each dog. Known symptoms range from mild to very severe that can lead to blindness.

 

Inheritance: autosomal recessive- read more

Mutation: NHEJ1 gene  (Parker et. al. 2007)

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: Rough Collie, Smooth Collie, Border Collie, Australian Shepherd, Lancashire Heeler, Shetland Sheepdog, Silken Windhound, Bearded Collie, Boykin Spaniel, Hokaido, Nova Scotia Duck Tolling Retriever, Longhaired Whippet 

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

 

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