The detail information of Progressive retinal atrophy
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: 2013

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB176 Papillon(Continental Toy Spaniel) 20.3-27.9 cm 2.3-4.5 kg Spain, Belgium, France
Associated Gene
Symbol Description Species Position Other Links
CNGB1 cyclic nucleotide gated channel beta 1 Canis lupus familiaris Chr2 : 61454518 - 61519006 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.
2020 Sheet,S.,Krishnamoorthy,S.,Park,W.,Lim,D.,Park,J.E.,Ko,M.,Choi,B.H.: :
Mechanistic insight into the progressive retinal atrophy disease in dogs via pathway-based genome-wide association analysis J Anim Sci Technol 62:765-776, 2020.
Pubmed reference: 33987558 . DOI: 10.5187/jast.2020.62.6.765 .
2018 Petersen-Jones,S.M.,Occelli,L.M.,Winkler,P.A.,Lee,W.,Sparrow,J.R.,Tsukikawa,M.,Boye,S.L.,Chiodo,V.,Capasso,J.E.,Becirovic,E.,Schön,C.,Seeliger,M.W.,Levin,A.V.,Michalakis,S.,Hauswirth,W.W.,Tsang,S.H.: :
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach. J Clin Invest 128:190-206, 2018.
Pubmed reference: 29202463 . DOI: 10.1172/JCI95161 .
2015 Reddy,B.,Kelawala,D.N.,Shah,T.,Patel,A.B.,Patil,D.B.,Parikh,P.V.,Patel,N.,Parmar,N.,Mohapatra,A.B.,Singh,K.M.,Menon,R.,Pandya,D.,Jakhesara,S.J.,Koringa,P.G.,Rao,M.V.,Joshi,C.G.: :
Identification of putative SNPs in progressive retinal atrophy affected Canis lupus familiaris using exome sequencing. Mamm Genome 26:638-49, 2015.
Pubmed reference: 26515695 . DOI: 10.1007/s00335-015-9607-6 .
2013 Ahonen,S.J.,Arumilli,M.,Lohi,H.: :
A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy. PLoS One 8:e72122, 2013.
Pubmed reference: 24015210 . DOI: 10.1371/journal.pone.0072122 .
2013 Winkler,P.A.,Ekenstedt,K.J.,Occelli,L.M.,Frattaroli,A.V.,Bartoe,J.T.,Venta,P.J.,Petersen-Jones,S.M.: :
A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa. PLoS One 8:e72229, 2013.
Pubmed reference: 23977260 . DOI: 10.1371/journal.pone.0072229 .
2010 Hertil,E.,Bergström,T.,Kell,U.,Karlstam,L.,Ekman,S.,Ekesten,B.: :
Retinal degeneration in nine Swedish Jämthund dogs. Vet Ophthalmol 13:110-6, 2010.
Pubmed reference: 20447030 . DOI: 10.1111/j.1463-5224.2010.00761.x .
2008 Jeong,M.B.,Han,C.H.,Narfström,K.,Awano,T.,Johnson,G.S.,Min,M.S.,Seong,J.K.,Seo,K.M.: :
A phosducin (PDC ) gene mutation does not cause progressive retinal atrophy in Korean miniature schnauzers. Anim Genet 39:455-6, 2008.
Pubmed reference: 18724412 .
2007 Aguirre-Hernández,J.,Wickström,K.,Sargan,D.R.: :
The Finnish lapphund retinal atrophy locus maps to the centromeric region of CFA9. BMC Vet Res 3:14, 2007.
Pubmed reference: 17623091 . DOI: 10.1186/1746-6148-3-14 .
2005 Bedford,PG.: :
Progressive retinal atrophy in dogs. Vet Rec 156:124, 2005.
Pubmed reference: 15704559 .
2005 Moody,JA.,Famula,TR.,Sampson,RC.,Murphy,KE.: :
Identification of microsatellite markers linked to progressive retinal atrophy in American Eskimo Dogs. Am J Vet Res 66:1900-2, 2005.
Pubmed reference: 16334947 .
2005 Turba,ME.,Binns,M.,Mellersh,C.,Godoy,JR.: :
Canine microsatellites associated with genes known to cause progressive retinal atrophy in dogs or retinitis pigmentosa in humans. Anim Genet 36:259-61, 2005.
Pubmed reference: 15932411 . DOI: 10.1111/j.1365-2052.2005.01271.x .
2004 Ketteritzsch,K.,Hamann,H.,Brahm,R.,Grussendorf,H.,Rosenhagen,C.U.,Distl,O.: :
Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J 168:151-9, 2004.
Pubmed reference: 15301763 . DOI: 10.1016/j.tvjl.2003.08.005 .
2003 Dekomien,G.,Epplen,J.T.: :
Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs Genetics Selection Evolution 35:445-56, 2003.
2003 Dekomien,G.,Epplen,JT.: :
Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophy. Mol Vis 9:601-5, 2003.
Pubmed reference: 14627956 .
2002 Augusteyn,R.C.: :
Genetic testing for progressive retinal atrophy in Irish Setters, an update Australian Veterinary Journal 80:503, 2002.
Pubmed reference: 12224622 .
2002 Dekomien,G.,Epplen,J.: :
The canine Phosducin gene: characterization of the exon-intron structure and exclusion as a candidate gene for generalized progressive retinal atrophy in 11 dog breeds Molecular Vision 8:138-142, 2002.
Pubmed reference: 12091798 .
2002 Dekomien,G.,Epplen,J.T.: :
The canine Recoverin (RCV1) gene: a candidate gene for generalized progressive retinal atrophy Molecular Vision 8:436-441, 2002.
Pubmed reference: 12447165 .
2002 Dekomien,G.,Epplen,J.T.: :
Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy BMC Genetics 3:12, 2002.
Pubmed reference: 12123530 .
2000 Dekomien,G.,Epplen,J.T.: :
Exclusion of the PDE6A gene for generalised progressive retinal atrophy in 11 breeds of dog Animal Genetics 31:135-139, 2000.
Pubmed reference: 10782214 .
2000 Maroudas,P.,Jobling,A.I.,Augusteyn,R.C.: :
Genetic screening for progressive retinal atrophy in the Australian population of Irish Setters Australian Veterinary Journal 78:773-774, 2000.
Pubmed reference: 11194724 .
2000 Runte,M.,Dekomien,G.,Epplen,J.T.: :
Evaluation of RDS/Peripherin and ROM1 as candidate genes in generalised progressive retinal atrophy and exclusion of digenic inheritance Animal Genetics 31:223-227, 2000.
Pubmed reference: 10895316 .
1999 Holmes,N.G.,Wood,J.L.N.,Binns,M.M.: :
DNA markers for generalised PRA in labrador retrievers Veterinary Record 144:160, 1999.
1999 Narfström,K.,Wrigstad,A.: :
Clinical, electrophysiological and morphological changes in a case of hereditary retinal degeneration in the Papillon dog. Vet Ophthalmol 2:67-74, 1999.
Pubmed reference: 11397244 .
1999 Ray,K.,Wang,W.,Czarnecki,J.,Zhang,Q.,Acland,G.M.,Aguirre,G.D.: :
Strategies for identification of mutations causing hereditary retinal diseases in dogs: Evaluation of opsin as a candidate gene Journal of Heredity 90:133-137, 1999.
Pubmed reference: 9987920 .
1998 Anon.: :
Genetic test to detect inherited blindness disorder in the Cardigan Welsh corgi Journal of Small Animal Practice 39:311, 1998.
1998 Anon.: :
Researchers discover likely link between human, canine gene and blindness American Journal of Veterinary Research 59:525-526, 1998.
1998 Dekomien,G.,Klein,W.,Epplen,J.T.: :
Polymorphisms in the canine rod transducin gene and exclusion as cause for generalised progressive retinal atrophy (gPRA) Journal of Experimental Animal Science 39:86-90, 1998.
1998 Klein,W.,Dekomien,G.,Holmes,N.,Epplen,J.T.: :
Evaluation of ROM1 as a candidate gene in generalised progressive retinal atrophy in dogs Animal Genetics 29:316-318, 1998.
Pubmed reference: 9745671 .
1998 Narfstrom,K.,Ekesten,B.: :
Electroretinographic evaluation of papillons with and without hereditary retinal degeneration American Journal of Veterinary Research 59:221-226, 1998.
Pubmed reference: 9492941 .
1998 Petersenjones,S.M.: :
A review of research to elucidate the causes of the generalized progressive retinal atrophies [Review] Veterinary Journal 155:5-18, 1998.
1997 Akhmedov,N.B.,Piriev,N.I.,Ray,K.,Acland,G.M.,Aguirre,G.D.,Farber,D.B.: :
Structure and analysis of the transducin BETA-3-SUBUNIT gene, a candidate for inherited cone degeneration (cd) in the dog Gene 194:47-56, 1997.
Pubmed reference: 9266671 .
1997 Kylma,T.,Paulin,L.,Hurwitz,M.Y.,Hurwitz,R.L.,Kommonen,B.: :
Cloning and analysis of the cdna encoding the rod g-protein transducin alpha, BETA-1 and GAMMA-1 subunits from the canine retina Gene 193:1-4, 1997.
Pubmed reference: 9249060 .
1997 Ray,K.,Baldwin,V.J.,Zeiss,C.,Acland,G.M.,Aguirre,G.D.: :
Canine rod transducin ALPHA-1 - cloning of the cdna and evaluation of the gene as a candidate for progressive retinal atrophy Current Eye Research 16:71-77, 1997.
Pubmed reference: 9043826 .
1997 Zhang,Q.,Pearcekelling,S.,Acland,G.M.,Aguirre,G.D.,Ray,K.: :
Canine rod photoreceptor cgmp-gated channel protein alpha-subunit - studies on the expression of the gene and characterization of the cdna Experimental Eye Research 65:301-309, 1997.
Pubmed reference: 9268598 . DOI: 10.1006/exer.1997.0342 .
1996 Clements,P.J.M.,Sargan,D.R.,Gould,D.J.,Petersen-Jones,S.M.: :
Recent advances in understanding the spectrum of canine generalised progressive retinal atrophy [Review] Journal of Small Animal Practice 37:155-162, 1996.
Pubmed reference: 8731401 .
1995 Gould,D.J.,Petersen-Jones,S.M.,Sohal,A.,Barnett,K.C.,Sargan,D.R.: :
Investigation of the role of opsin gene polymorphism in generalized progressive retinal atrophies in dogs Animal Genetics 26:261-267, 1995.
Pubmed reference: 7661398 .
1995 Hilsenroth,R.: :
Progressive retinal atrophy Canine Practice 20:1, 1995.
1995 Håkanson,N.,Narfström,K.: :
Progressive retinal atrophy in papillon dogs in Sweden: A clinical survey. Vet Comp Ophthalmol 5:83-87, 1995.
1994 Granitz,U.: :
Decreased vision and blindness in dogs - A retrospective study Berliner und Munchener Tierarztliche Wochenschrift 107:295-299, 1994.
Pubmed reference: 7980378 .
1994 Spiess,B.M.: :
[Inherited Ocular Diseases in the Entlebucher Mountain Dog] Schweizer Archiv Fur Tierheilkunde 136:105-110, 1994.
Pubmed reference: 8171308 .
1992 Christmas,R.E.: :
Common Ocular Problems of Shih-Tzu Dogs Canadian Veterinary Journal - Revue Veterinaire Canadienne 33:390-393, 1992.
1991 Walde,I.,Neumann,W.: :
International Eye Examination Certificate for Inherited Eye Diseases in Dogs Wiener Tierarztliche Monatsschrift 78:284, 1991.
1990 Bjerkas,E.: :
Generalised Progressive Retinal Atrophy in the English Setter in Norway Veterinary Record 126:217, 1990.
Pubmed reference: 2316162 .
1989 Bedford,P.G.C.: :
Control of inherited retinal degeneration in dogs and cats in the United Kingdom Journal of Small Animal Practice 30:172-177, 1989.
1986 Garmer,L.: :
[Progressive retinal atrophy (PRA) in Labrador Retrievers] Svensk Veterinartidning 38:120-123, 1986.
1986 Hedhammar,A.: :
[Current situation regarding the eradication of genetically conditioned eye disorders in Sweden] Svensk Veterinartidning 38:152-160, 1986.
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.
1977 Anon.: :
Hereditary eye abnormalities in the dog. II. Central progressive retinal atrophy Animal Health Trust and Small Animal Centre :?, 1977.
1976 Aguirre,G.: :
Inherited retinal degenerations in the dog Transactions of the American Academy of Ophthalmology and Otology 81:667-676, 1976.
1975 Peiffer,R.L.,Gelatt,K.N.: :
Progressive retinal atrophy in two atypical breeds of dogs Veterinary Medicine and Small Animal Clinician 70:1476-1478, 1975.
Pubmed reference: 1043555 .
1969 Barnett,K.C.,Dunn,W.L.: :
The international sheep dog society and progressive retinal atrophy Journal of Small Animal Practice 10:301-307, 1969.
Pubmed reference: 5816740 .
1967 Roberts,S.R.: :
Three inherited ocular defects in the dog Modern Veterinary Practice 48:30-34, 1967.
1965 Anon.: :
Progressive retinal atrophy certification scheme Veterinary Record 77:1592-1593, 1965.
1965 Barnett,K.C.: :
Canine retinopathies. II. The Miniature and Toy Poodle Journal of Small Animal Practice 6:93-109, 1965.
1965 Barnett,K.C.: :
Canine retinopathies. IV. Causes of retinal atrophy Journal of Small Animal Practice 6:229-242, 1965.
1965 Barnett,K.C.: :
Canine retinopathies. III. The other breeds Journal of Small Animal Practice 6:185-196, 1965.