The detail information of Collie eye anomaly
Basic Information

Disease Ontology ID: DDTO:0000948

Disease Description: A condition of collie dogs where the narrow shape of the head causes the eyes to be malformed.

Inherit Mode: Inheritance is autosomal recessivewith variable expression and pleomorphism (meaning that there is a wide range in clinical expression of the defect).

Disease Symptom: Many dogs will have apparently normal vision unless retinal detachment with or without haemorrhage occurs, causing blindness in the affected eye. Retinal detachments are often one-sided and generally occur before 2 years of age.

Disease Cause: -

Disease Diagnose: Your veterinarian will be able to see the abnormalities in the back of the eye with an ophthalmoscope.

Treat Method: There is no treatment.

Breeder Advice: Minor lesions may not be detectable by ophthalmoscope after 3 months of age, so collies intended for breeding programmes should be examined early at 5-6 weeks of age. Even dogs with minor lesions (mild choroidal hypoplasia) should not be bred because their offspring may be affected with more serious forms of the disorder. Because of the potential for serious eye disease with this trait, neither affected dogs, their parents, or their offspring should be used for breeding. Siblings of affected dogs should not be used either, unless eye exams before 3 months of age demonstrate that they are unaffected.

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Collie eye anomaly - Autosomal Recessive -
Associated Breeds
iDog Breed Number Breed Name Personality Height Weight Breed Source
CB16 Australian Shepherd Smart, work-oriented, exuberant 50.8-58.4 cm (male), 45.7-53.3 cm (female) 24.9-31.8 kg (male), 15.9-24.9 kg (female) United States
CB43 Border Collie Affectionate, Smart, Energetic 48.3-55.9 cm (male), 45.7-53.3 cm (female) 13.6-20.4 kg (male), 12.2-19.1 kg (female) United Kingdom (Scotland, England, Wales)
CB79 Collie Graceful, devoted, and proud 61-66 cm (male), 55.9-61 cm (female) 27.2-34 kg (male), 22.7-29.5 kg (female)
CB216 Shetland Shepherd Dog Bright, playful, and energetic 33-40.6 cm 6.8-11.3 kg United Kingdom (Scotland)
CB17 Australian Terrier Affectionate, Courageous, Spirited 25.4-27.9 cm 5.4-8.2 kg Australia
CB45 Borzoi(Russian wolfhound) Loyal, affectionate, regally dignified; a charming but independent-minded canine nobleman 71.1 cm & up (male), 66 cm & up (female) 34-47.6 kg (male), 27.2-38.6 kg (female) Russia
CB80 Coton de Tulear Bright, happy-go-lucky, endlessly charming; born to love and to be loved 25.4-27.9 cm (male), 22.9-25.4 cm (female) 4.1-6.8 kg (male), 3.6-5.9 kg (female) Madagascar
Associated Disease Variants from OMIA
Gene Differential Expression
References
2019 Kucharczyk,N.,Cislo-Pakuluk,A.,Bedford,P.: :
Collie Eye Anomaly in Australian Kelpie dogs in Poland. BMC Vet Res 15:392, 2019.
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2018 Brown,E.A.,Thomasy,S.M.,Murphy,C.J.,Bannasch,D.L.: :
Genetic analysis of optic nerve head coloboma in the Nova Scotia Duck Tolling Retriever identifies discordance with the NHEJ1 intronic deletion (collie eye anomaly mutation). Vet Ophthalmol 21:144-150, 2018.
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2018 Grosås,S.,Lingaas,F.,Prestrud,K.W.,Ropstad,E.O.: :
Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies. Vet Ophthalmol 21:371-375, 2018.
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2016 Fredholm,M.,Larsen,R.C.,Jönsson,M.,Söderlund,M.A.,Hardon,T.,Proschowsky,H.F.: :
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2016 Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
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2012 Miyadera,K.,Acland,G.M.,Aguirre,G.D.: :
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2012 Mizukami,K.,Chang,H.S.,Ota,M.,Yabuki,A.,Hossain,M.A.,Rahman,M.M.,Uddin,M.M.,Yamato,O.: :
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2010 Chang,HS.,Mizukami,K.,Yabuki,A.,Hossain,MA.,Rahman,MM.,Uddin,MM.,Arai,T.,Yamato,O.: :
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2009 Walser-Reinhardt,L.,Hässig,M.,Spiess,B.: :
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2007 Munyard,KA.,Sherry,CR.,Sherry,L.: :
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2007 Parker,H.G.,Kukekova,A.V.,Akey,D.T.,Goldstein,O.,Kirkness,E.F.,Baysac,K.C.,Mosher,D.S.,Aguirre,G.D.,Acland,G.M.,Ostrander,E.A.: :
Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res 17:1562-71, 2007.
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2005 Rampazzo,A.,D'Angelo,A.,Capucchio,MT.,Sereno,S.,Peruccio,C.: :
Collie eye anomaly in a mixed-breed dog. Vet Ophthalmol 8:357-60, 2005.
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2004 Pedersen,P.B.,Nielsen,C.B.,Heegaard,S.: :
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2003 Lowe,JK.,Kukekova,AV.,Kirkness,EF.,Langlois,MC.,Aguirre,GD.,Acland,GM.,Ostrander,EA.: :
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2002 Beuing,G.,Erhardt,G.: :
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2001 Sargan,D.R.: :
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2000 Wallin-Hakanson,B.,Wallin-Hakanson,N.,Hedhammar,A.: :
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2000 Wallin-Hakanson,B.,Wallin-Hakanson,N.,Hedhammar,A.: :
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1999 Spadiut,H.W.,Nell,B.: :
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1998 Bedford,P.G.C.: :
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1991 Bjerkas,E.: :
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1991 Sanders,G.: :
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1991 Gelatt, K.N. :
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1986 Wikstrom,B.: :
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1982 Bedford,PG.: :
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1982 Bedford,PG.: :
Collie eye anomaly in the border collie. Vet Rec 111:34-5, 1982.
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1981 Stades,F.C.,Barnett,K.C.: :
Collie eye anomaly in collies in the Netherlands. Vet Q 3:66-73, 1981.
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1980 Bedford,P.G.C.: :
Incidence of colie eye anomaly (Correspondence) Veterinary Record 107:95, 1980.
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1980 Walde,I.: :
Visual defects in dogs as the result of breed specific fundus diseases (progressive retinal atrophy and collie eye anomaly) Wiener Tierarztliche Monatsschrift 67:20-24, 1980.
1979 Barnett,KC.,Stades,FC.: :
Collie eye anomaly in the Shetland sheepdog in the Netherlands. J Small Anim Pract 20:321-9, 1979.
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1979 Barnett,KC.: :
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1974 Albert,R.A.,Wilder,D.T.: :
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1972 Yakely,W.L.: :
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1970 Blogg,JR.: :
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1966 Roberts,S.R.,Dellaporta,A.,Winter,F.C.: :
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