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Curly Coat Dry Eye (CKCSID)

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

Relevance Rating: Unknown, not evaluated or no evidence for test in this breed

General

Disease Name
Curly Coat Dry Eye (CKCSID)
Mutation
c.977delC
Mutation 2
p.Pro326Hisfs*258
Test Type
Genetic Disease/Disorder
Details
Dry eye and curly coat syndrome may be unique to Cavalier King Charles Spaniels. Dry eye and curly coat syndrome affects a dog?s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. Sadly, most dogs diagnosed with the condition are put to sleep.
Details 2
Dry eye and curly coat syndrome otherwise known as congenital keratoconjunctivitis sicca and ichtyosiform dermatosis, affects a dog?s eyes and skin. Affected dogs produce no tears making their eyes incredibly sore. Their skin becomes very flaky and dry, particularly around the foot, and this can make standing and walking difficult and painful. This disease may be unique to Cavalier King Charles Spaniels and most dogs diagnosed with the condition are put to sleep due to limited treatements and the severity of the disease.
Published
Forman, O.P., Penderis, J., Hartley, C., Hayward, L.J., Ricketts, S.L., Mellersh, C.S. : Parallel Mapping and Simultaneous Sequencing Reveals Deletions in BCAN and FAM83H Associated with Discrete Inherited Disorders in a Domestic Dog Breed. PLoS Genet 8:e1002462, 2012. Pubmed reference: 22253609. DOI: 10.1371/journal.pgen.1002462.

Breed Specific Info

Breed-specific 1
Cavalier King Charles Spaniel
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