EVG, molekularna diagnostika
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CKCSID or „dry eye curly coat" syndrome is an inherited disorder affecting in particular eyes, skin and nails. The disease manifests at birth, with further clinical signs evident in early life. Affected dog usually have congenitally abnormal coat (rough/curly), signs of keratoconjunctivitis sicca (KCS) from eyelid opening, and are usually smaller than littermates. In affected dog reduced production of aqueous tears and tear film result in a tacky mucoid or mucopurulent ocular discharge and ulceration of the cornea in severe cases. Persistent scale along the dorsal spine and flanks with a harsh, frizzy and alopecic coat is evident in the first few months of life, often causing the dog to scratch. Footpads are hyperkeratinised from young adulthood including nail growth abnormalities and intermittent sloughing, pain and lameness. Ventral abdominal skin becomes hyperpigmented and hyperkeratinised in adulthood. Affected dogs also tend to suffer increased dental disease.

Inheritance: Autosomal recessive - read more.

Mutation: FAM83H 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: Cavalier King Charles Spaniel

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


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