Test Detail

Congenital syndrome described in the Cavalier King Charles Spaniel combining keratoconjunctivitis sicca (tear deficiency) and ichthyosis or ichthyosiform dermatosis, with an altered curly coat. It is caused by a deletion in the FAM83H gene and is inherited in an autosomal recessive manner. Affected animals require lifelong ophthalmological and dermatological management. Complementary, not substitutive, to the clinical examination.

Applicable breed: Cavalier King Charles Spaniel (the only documented breed). Limited data on carrier frequency.

- Test breeding animals before mating.
- Do not mate two carriers: on average, 25% of the litter would be homozygous and affected.
- A carrier can be mated with a clear animal; test the offspring intended for breeding.
- Exclude homozygous affected animals from breeding.
- Inform buyers of the carrier status of animals intended for reproduction.

Differentiate from acquired keratoconjunctivitis sicca and from other canine ichthyoses. Tear deficiency requires artificial tears and periodic ophthalmological monitoring; the dermatosis requires keratolytic and emollient management. The genetic test identifies carriers and prevents the mating of two carriers.

1. Forman OP, Penderis J, Hartley C, Hayward LJ, Ricketts SL, Mellersh CS. 2012. Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed (PLoS Genet) (PMID 22253609).
2. OMIA:001683-9615 (Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis, FAM83H, Canis lupus familiaris).