Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis

Body function:
Eyes
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Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis (CKCSID) is an inherited disorder that affects the Cavalier King Charles Spaniel. It is characterized by dry eyes due to tear production failure and skin abnormalities that cause scaliness and itchiness. These conditions are present at birth and autosomal recessive, requiring two copies of the same mutation in the FAM83H-chr gene for the disease to manifest.
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List of affected breeds:

Genetic research has linked this gene and condition in the following breeds:

Cavalier King Charles Spaniel

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What does this mean for a dog with this trait?

CKCSID management involves regular application of artificial tears to alleviate dry eye symptoms and antibiotics for treating corneal ulcers. Itchy skin can be soothed with baths and conditioning creams, while thick paw pads may require special care to prevent cracking. Genetic testing can help identify carriers.

Symptoms

CKCSID symptoms include severe dry eye (keratoconjunctivitis sicca), leading to corneal ulcers, infections, and ocular discharge. Affected puppies have rough, curly coats and thick, crusty paw pads, which can crack and cause pain. As the dog matures, the coat remains sparse and frizzy, and the skin thickens and darkens around the belly. CKCSID dogs also have a higher incidence of dental disease in adulthood.

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