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Curly Coat Dry Eye Syndrome Overview

Curly Coat Dry Eye Syndrome
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Category: Ophthalmologic (Associated with the Eyes)

Gene: FAM83H on Chromosome 13

Variant Detected: Deletion of C

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

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. 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.

Research Citation(s): PLoS Genet. 2012 Jan;8(1):e1002462

Associated Breed(s): Cavalier King Charles Spaniel,  Mixed Breed,  Cavoodle,