Description:  CKCSID – congenital keratoconjunctivitis sicca with ichthyoform dermatosis, is a hereditary disease affecting mainly eyes, skin and claws in the Cavalier King Charles Spaniel breed. In other breeds, the incidence of KCS (keratoconjunctivitis sicca) together with ID (ichthyosomal dermatosis) has not been reported. The disease has been described in the literature in 2006 (Barnett et al. 2006). A 1 bp deletion in the FAM83H gene has been reported in association with this disease (Forman et al. 2012). Due to the phenotype of CKCSID, it can be assumed that the FAM83H gene plays an important role in skin development and probably also in the formation of dental enamel. Affected individuals are smaller than others from birth and show abnormal curly and rough hair. Keratoconjunctivitis sicca (KCS) the so-called “dry eye” occurs after opening the eyes. Other clinical symptoms include lifelong tears, corneal drying, and peeling of the skin along the spine, excessively pigmented and ragged skin on the abdomen, excessive horn padding, claw abnormalities, or tooth disease.

Inheritance: autosomal recessive 

Mutation: c.977delC in FAM83H gene

Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended. 

The analysis is suitable for the following breeds: Cavalier King Charles Spaniel

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