Dry Eye Curly Coat Syndrome / CKCSID (FAM83H-related) - Cavalier King Charles Spaniel

What does this test analyse?

This genetic test analyses the FAM83H variant c.977delC for Dry Eye Curly Coat Syndrome in the Cavalier King Charles Spaniel. The condition is also described as CKCSID, congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, KCS with ichthyosiform dermatosis, DE-CC, CCS and dry eye curly coat.

What does this condition mean?

Dry Eye Curly Coat Syndrome combines a severe congenital eye component with a skin and coat component. Affected puppies can show a rough or curly coat from birth or shortly afterwards. When the eyelids open, insufficient tear production often becomes apparent. This causes the cornea and conjunctiva to dry out, with redness, mucoid discharge, irritation and increased risk of corneal damage.

The skin component can include dry, scaly or thickened skin, hyperkeratosis of the footpads, abnormal nails, painful movement, hair loss and sometimes dental problems. Because this syndrome can cause several visible problems at the same time, DNA testing is highly useful for identifying carriers before breeding and preventing affected combinations.

Practical value of this test

• Gives breeders clear information about clear, carrier and genetically affected dogs for this FAM83H variant.
• Helps avoid carrier-by-carrier matings and thereby prevent puppies with this serious eye, skin and coat syndrome.
• Supports responsible selection without automatically removing healthy carriers from valuable lines.
• Makes the result useful for litter planning, purchase decisions and clear communication about CKCSID status.
• In young puppies with rough coat, dry eyes or skin problems, the test can provide a concrete genetic explanation for this specific condition.

Inheritance and result

Dry Eye Curly Coat Syndrome caused by FAM83H c.977delC is inherited as autosomal recessive. A dog with two normal alleles is clear. A dog with one copy is a carrier and can pass the variant on. A dog with two copies of the deletion is genetically affected for this tested form of CKCSID.