The detail information of Collie eye anomaly
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2007

Species-specific name: -

Species-specific symbol: cea

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB16 Australian Shepherd 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 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)
CB49 Boykin Spaniel 39.4-45.7 cm (male), 35.6-41.9 cm (female) 13.6-18.1 kg (male), 11.3-15.9 kg (female) United States
CB150 Lancashire Heeler 25.4-35cm 4-7.7kg United Kingdom (England)
CB173 Nova Scotia Duck Tolling Retriever 45.7-53.3 cm (male), 43.2-50.8 cm (female) 15.9-22.7 kg Canada
CB289 Smooth-Haired Collie 61-66 cm (male), 56-61 cm (female) 27-34 kg (male), 22.5-29.5 kg (female) United Kingdom (Scotland)
CB216 Shetland Shepherd Dog 33-40.6 cm 6.8-11.3 kg United Kingdom (Scotland)
CB392 Spanish Hound 52.1-57.2 cm (male), 48.3-53.3 cm (female) Spain
CB291 Standard American Eskimo Dog 38-48 cm
Associated Gene
Symbol Description Species Position Other Links
NHEJ1 nonhomologous end-joining factor 1 Canis lupus familiaris Chr37 : 25735139 - 25652649 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Kucharczyk,N.,Cislo-Pakuluk,A.,Bedford,P.: :
Collie Eye Anomaly in Australian Kelpie dogs in Poland. BMC Vet Res 15:392, 2019.
Pubmed reference: 31684941 . DOI: 10.1186/s12917-019-2143-y .
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.
Pubmed reference: 28702949 . DOI: 10.1111/vop.12488 .
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.
Pubmed reference: 29111596 . DOI: 10.1111/vop.12520 .
2016 Fredholm,M.,Larsen,R.C.,Jönsson,M.,Söderlund,M.A.,Hardon,T.,Proschowsky,H.F.: :
Discrepancy in compliance between the clinical and genetic diagnosis of choroidal hypoplasia in Danish Rough Collies and Shetland Sheepdogs. Anim Genet 47:250-2, 2016.
Pubmed reference: 26732749 . DOI: 10.1111/age.12405 .
2016 Mizukami,K.,Yabuki,A.,Kohyama,M.,Kushida,K.,Rahman,M.M.,Uddin,M.M.,Sawa,M.,Yamato,O.: :
Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling. Vet J 214:21-3, 2016.
Pubmed reference: 27387721 . DOI: 10.1016/j.tvjl.2016.05.004 .
2012 Miyadera,K.,Acland,G.M.,Aguirre,G.D.: :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012.
Pubmed reference: 22065099 . DOI: 10.1007/s00335-011-9361-3 .
2012 Mizukami,K.,Chang,H.S.,Ota,M.,Yabuki,A.,Hossain,M.A.,Rahman,M.M.,Uddin,M.M.,Yamato,O.: :
Collie eye anomaly in Hokkaido dogs: case study. Vet Ophthalmol 15:128-32, 2012.
Pubmed reference: 22051190 . DOI: 10.1111/j.1463-5224.2011.00950.x .
2010 Chang,HS.,Mizukami,K.,Yabuki,A.,Hossain,MA.,Rahman,MM.,Uddin,MM.,Arai,T.,Yamato,O.: :
A novel rapid genotyping technique for Collie eye anomaly: SYBR Green-based real-time polymerase chain reaction method applicable to blood and saliva specimens on Flinders Technology Associates filter paper. J Vet Diagn Invest 22:708-15, 2010.
Pubmed reference: 20807925 .
2009 Walser-Reinhardt,L.,Hässig,M.,Spiess,B.: :
Collie Eye Anomaly in Switzerland. Schweiz Arch Tierheilkd 151:597-603, 2009.
Pubmed reference: 19946851 . DOI: 10.1024/0036-7281.151.12.597 .
2007 Munyard,KA.,Sherry,CR.,Sherry,L.: :
A retrospective evaluation of congenital ocular defects in Australian Shepherd dogs in Australia. Vet Ophthalmol 10:19-22, 2007.
Pubmed reference: 17204124 . DOI: 10.1111/j.1463-5224.2007.00486.x .
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.
Pubmed reference: 17916641 . DOI: 10.1101/gr.6772807 .
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.
Pubmed reference: 16178848 . DOI: 10.1111/j.1463-5224.2005.00417.x .
2004 Pedersen,P.B.,Nielsen,C.B.,Heegaard,S.: :
Collie eye anomaly in blind Collie pups Dansk Veterinaertidsskrift 87:27-29, 2004.
2003 Lowe,JK.,Kukekova,AV.,Kirkness,EF.,Langlois,MC.,Aguirre,GD.,Acland,GM.,Ostrander,EA.: :
Linkage mapping of the primary disease locus for collie eye anomaly. Genomics 82:86-95, 2003.
Pubmed reference: 12809679 .
2002 Beuing,G.,Erhardt,G.: :
Influences on the frequency of estimated collie eye anomaly (CEA) in Collies and Shelties - results of a breeding club survey Kleintierpraxis 47:407-413, 2002.
2001 Sargan,D.R.: :
Collie eye anomaly in the rough collie Journal of Small Animal Practice 42:204 only, 2001.
Pubmed reference: 11327669 .
2000 Wallin-Hakanson,B.,Wallin-Hakanson,N.,Hedhammar,A.: :
Collie eye anomaly in the rough collie in Sweden: genetic transmission and influence on offspring vitality Journal of Small Animal Practice 41:254-258, 2000.
Pubmed reference: 10879403 .
2000 Wallin-Hakanson,B.,Wallin-Hakanson,N.,Hedhammar,A.: :
Influence of selective breeding on the prevalence of chorioretinal dysplasia and coloboma in the rough collie in Sweden Journal of Small Animal Practice 41:56-59, 2000.
Pubmed reference: 10701187 .
1999 Spadiut,H.W.,Nell,B.: :
Collie eye anomaly (CEA) in a Border Collie in Austria [German] Wiener Tierarztliche Monatsschrift 86:378-381, 1999.
1998 Bedford,P.G.C.: :
Collie eye anomaly in the Lancashire Heeler Veterinary Record 143:354-356, 1998.
Pubmed reference: 9800301 .
1991 Bjerkas,E.: :
Collie Eye Anomaly in the Rough Collie in Norway Journal of Small Animal Practice 32:89-92, 1991.
1991 Sanders,G.: :
Collie Eye Anomaly Australian Veterinary Practitioner 21:198, 1991.
1986 Wikstrom,B.: :
[Collie eye anomaly. An account of ophthalmoscopic evaluations of Collies in central Sweden in 1974-84] Svensk Veterinartidning 38:140-143, 1986.
1982 Bedford,PG.: :
Collie eye anomaly in the United Kingdom. Vet Rec 111:263-70, 1982.
Pubmed reference: 7147637 .
1982 Bedford,PG.: :
Collie eye anomaly in the border collie. Vet Rec 111:34-5, 1982.
Pubmed reference: 6812274 .
1981 Stades,F.C.,Barnett,K.C.: :
Collie eye anomaly in collies in the Netherlands. Vet Q 3:66-73, 1981.
Pubmed reference: 6787732 . DOI: 10.1080/01652176.1981.9693799 .
1980 Bedford,P.G.C.: :
Incidence of colie eye anomaly (Correspondence) Veterinary Record 107:95, 1980.
Pubmed reference: 6777963 .
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.: :
Collie eye anomaly (CEA). J Small Anim Pract 20:537-42, 1979.
Pubmed reference: 480920 .
1979 Barnett,KC.,Stades,FC.: :
Collie eye anomaly in the Shetland sheepdog in the Netherlands. J Small Anim Pract 20:321-9, 1979.
Pubmed reference: 120471 .
1974 Albert,R.A.,Wilder,D.T.: :
The Collie eye anomaly Auburn Veterinarian 30:103-107, 1974.
1972 Yakely,W.L.: :
Collie eye anomaly: decreased prevalence through selective breeding Journal of the American Veterinary Medical Association 161:1103-1107, 1972.
Pubmed reference: 4631461 .
1970 Blogg,JR.: :
Collie eye anomaly. Aust Vet J 46:530-2, 1970.
Pubmed reference: 4992161 .
1969 Cello,R.M.: :
Collie eye anomaly: comments Journal of the American Veterinary Medical Association 155:870-871, 1969.
Pubmed reference: 4980212 .
1969 Wyman,M.,Donovan,E.F.: :
Eye anomaly of the Collie Journal of the American Veterinary Medical Association 155:866-870, 1969.
Pubmed reference: 4980211 .
1966 Roberts,S.R.,Dellaporta,A.,Winter,F.C.: :
The Collie ectasia syndrome: pathology of the eyes of young and adult dogs American Journal of Ophthalmology 62:728-752, 1966.
Pubmed reference: 4959239 .
1966 Roberts,SR.,Dellaporta,A.,Winter,FC.: :
The collie ectasia syndrome. Pathologic alterations in the eyes of puppies one to fourteen days of age. Am J Ophthalmol 61:1458-65, 1966.
Pubmed reference: 5949333 .
1965 Roberts,S.R.,Dellaporta,A.: :
Congenital ectasia of the sclera in Collie dogs. I. Clinical features American Journal of Ophthalmology 59:180-186, 1965.
Pubmed reference: 14268789 .
1961 Roberts,S.R.: :
Congenital posterior ectasia of the sclera in Collies Veterinary Excerpts 21:63-67, 1961.
1960 Roberts,S.R.: :
Congenital posterior ectasia of the sclera in Collie dogs American Journal of Ophthalmology 50:451-465, 1960.
Pubmed reference: 14437837 .