Curly Coat Dry Eye Syndrome (Cavalier Type) Overview
Curly Coat Dry Eye Syndrome (Cavalier Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures
Gene: Family with sequence similarity 83 member H (FAM83H) on chromosome 13
Variant Detected: Nucleotide Deletion c.991delG
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
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): Forman OP, et al. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed. (2012) PLoS Genet, 8;1, e1002462.
Associated Breed(s): Cavalier King Charles Spaniel, Mixed Breed, Cavoodle, Cavador,