Testing of dogs: CKCSID

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Usual turnaround time: 12 business days
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CKCSID disease or „dry eye curly coat" syndrome

The CKCSID is generally known as "dry eye curly coat syndrome". CKCSID or also known under the term congenital keratoconjuctivitis sicca and ichthyosiform dermatosis  is an inherited disorder affecting in particular eyes, skin and nails of a single breed, the Cavalier King Charles Spaniel. In other breeds, KSC (keratoconjuctivitis sicca) together with ID (ichthyosioform dermatosis) has not been observed.   This disease was first described in literature in 2006 (Barnett et al. 2006). In connection with this disease, a single base-pair deletion in FAM83H gene was identified (Forman et al. 2012). With regard to CKCSID phenotype, it can be supposed that FAM83H gene plays an important role in skin development and regulation, in dogs obviously associated with formation of tooth enamel.

The affected dogs are usually smaller than their littermates and have abnormal rough/curly coat. After eyelid opening, the puppies show evident signs of "dry eye" - keratoconjuctivitis sicca (KCS). Further clinical signs become evident in early life. The CKCSID disease causes reduced production of aqueous tears and tear film that results in cornea drying, focal ulceration and subsequently to severe cornea damage.   
Persistent scale along the dorsal spine is evident and often causes the dogs to scratch. The ventral abdominal skin becomes hyperpigmented and hyper keratinised in adulthood. Footpads are hyperkeratinised from young adulthood with nail growth abnormalities causing pain and lameness. Affected dogs also tend to suffer increased dental disease. In affected adult dogs, extensive tartar formation with associated gingivitis was frequently found and in some cases single or multiple tooth extraction was necessary. The dental treatment requires general anaesthesia (Barnett et al. 2006).

The CKCSID is an autosomal recessive inherited disease. The disease develops in individuals, who inherit the mutated gene from both parents. These individuals are designated as P/P (positive / positive). Molecular-genetic tests can be used to confirm the diagnosis. The carriers of the mutated gene, designated N/ P (negative / positive, heterozygote carriers) obtained the mutated gene only from one parent and are without clinical signs; however they pass the disease on to their offsprings.


Barnett KC (2006) Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract 47:524-528.

Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, et al. (2012) Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8(1): e1002462. doi:10.1371/journal.pgen.1002462

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Usual turnaround time: 12 business days
1 test price: 56.00 $ without VAT