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Curly Coat Dry Eye (CKCSID)

General

Disease Name
Curly Coat Dry Eye (CKCSID)
Disease Name 2
Dry Eye Curly Coat Syndrome / Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis
OMIA
1683
Gene Name
FAM83H
Mutation
c.977delC
Mutation 2
p.Pro326Hisfs*258
Mutation 3
c.1015delC
Disease Code
CKCSID
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
congenital keratoconjunctivitis sicca and ichthyosiform dermatosis
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.
Published 2
Hartley, C., Donaldson, D., Smith, K.C., Henley, W., Lewis, T.W., Blott, S., Mellersh, C., Barnett, K.C. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in 25 Cavalier King Charles spaniel dogs. Part I: clinical signs, histopathology, and inheritance. Vet Ophthalmol 15:315-26, 2012. Pubmed reference: 22212237. DOI: 10.1111/j.1463-5224.2011.00986.x.
Published 3
Hartley, C., Barnett, K.C., Pettitt, L., Forman, O.P., Blott, S., Mellersh, C.S. : Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in Cavalier King Charles spaniel dogs. Part II: candidate gene study. Vet Ophthalmol 15:327-32, 2012. Pubmed reference: 22339941. DOI: 10.1111/j.1463-5224.2012.00987.x.
Body/System/Process
Eye
Inheritance
AR
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