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Curly Coat Dry Eye Syndrome (Cavalier Type)

Curly Coat Dry Eye Syndrome (Cavalier Type)

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Test Overview:

A congenital condition in the CKCS that affects the skin, eyes and nails is the syndrome known as congenital keratoconjunctivitis sicca and ichthyosiform dermatosis (CKCSID), or more commonly referred to as “dry eye curly coat syndrome”. Reduced production of aqueous tears and tear film qualitative abnormalities result in a tacky mucoid or mucopurulent ocular discharge and ulceration of the cornea in severe cases, symptoms are usually diagnosed between 2-10 weeks of age with keratoconjuncitivits sicca and ichthyosiform dermatosis. 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. Ventral abdominal skin becomes hyperpigmented and hyperkeratinised in adulthood.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

FAM83H

Variant Detected:

chr13:37328055 (canFam3): 1 bp deletion (del C)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel. J Small Anim Pract. 2006 Sep;47(9):524-8. [PubMed: 16961470] Hartley C, Donaldson D, Smith KC, Henley W, Lewis TW, Blott S, Mellersh C, Barnett KC. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs - Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol. 2012 Sep;15(5):315-26. [PubMed: 22212237]

Associated Breed(s):

Bernardoodle, Cavador, Cavalier King Charles Spaniel, Cavoodle, Mixed Breed,

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