OMIA:000830-9615 : Retinal atrophy, progressive, generic in Canis lupus familiaris (dog) |
In other species: domestic cat , sheep
Categories: Vision / eye phene
Mendelian trait/disorder: unknown
Disease-related: yes
Key variant is published: no
Cross-species summary: Progressive, non-inflammatory degeneration or dysplasia of rods and cones or just of rods, leading to firstly night blindness, and later to blindness during the day.
Species-specific description: Many different forms of progressive retinal atrophy (PRA) exist and more than 10 different genes have been identified so far in dogs to have likely causal variants for PRA. Please review OMIA for other variants. Information relating to PRA due to a variant in the CNGB1 gene was previously listed here but has been moved to 'OMIA:002723-9615 : Retinal atrophy, progressive, CNGB1-related in Canis lupus familiaris' [16/06/2023].
Molecular basis: Extensive molecular investigations have excluded the opsin gene as a candidate locus for this disorder in Miniature Poodles, English Cocker Spaniels or Labrador Retrievers (Gould et al., 1995).
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000830-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 2023 | Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. : |
| Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77. | |
| Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. : | |
| Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787. DOI: 10.1186/s13059-023-03023-7. | |
| Occelli, L.M., Zobel, L., Stoddard, J., Wagner, J., Pasmanter, N., Querubin, J., Renner, L.M., Reynaga, R., Winkler, P.A., Sun, K., Felipe Lp Marinho, L., O'Riordan, C.R., Frederick, A., Lauer, A., Tsang, S.H., Hauswirth, W.W., McGill, T.J., Neuringer, M., Michalakis, S., Petersen-Jones, S.M. : | |
| Development of a translatable gene augmentation therapy for CNGB1-Retinitis Pigmentosa. Mol Ther 31:2028-2041, 2023. Pubmed reference: 37056049. DOI: 10.1016/j.ymthe.2023.04.005. | |
| 2021 | Serres-Armero, A., Davis, B.W., Povolotskaya, I.S., Morcillo-Suarez, C., Plassais, J., Juan, D., Ostrander, E.A., Marques-Bonet, T. : |
| Copy number variation underlies complex phenotypes in domestic dog breeds and other canids. Genome Res 31:762-774, 2021. Pubmed reference: 33863806. DOI: 10.1101/gr.266049.120. | |
| Urkasemsin, G., Pongpanich, M., Sariya, L., Kongcharoen, A., Buddhirongawatr, R., Rungarunlert, S., Ferreira, J.N., Chetruengchai, W., Phokaew, C., Srichomthong, C., Shotelersuk, V. : | |
| Whole genome sequencing identifies a homozygous nonsense mutation in the JPH2 gene in Shih Tzu dogs with progressive retinal atrophy. Anim Genet 52:714-719, 2021. Pubmed reference: 34231238. DOI: 10.1111/age.13118. | |
| 2020 | Krishnan, H., Diehl, K., Stefanovski, D., Aguirre, G.D. : |
| Vitreous degeneration and associated ocular abnormalities in the dog. Vet Ophthalmol 23:219-224, 2020. Pubmed reference: 31464365. DOI: 10.1111/vop.12707. | |
| 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. | |
| 2019 | Bunel, M., Chaudieu, G., Hamel, C., Lagoutte, L., Manes, G., Botherel, N., Brabet, P., Pilorge, P., André, C., Quignon, P. : |
| Natural models for retinitis pigmentosa: progressive retinal atrophy in dog breeds. Hum Genet 138:441-453, 2019. Pubmed reference: 30904946. DOI: 10.1007/s00439-019-01999-6. | |
| 2016 | Palanova, A. : |
| The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) 7:41-51, 2016. Pubmed reference: 30050836. DOI: 10.2147/VMRR.S63537. | |
| 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. | |
| Papaioannou, N.G., Dubielzig, R.R. : | |
| Histopathological and immunohistochemical features of vitreoretinopathy in Shih Tzu dogs. J Comp Pathol 148:230-5, 2013. Pubmed reference: 22819016. DOI: 10.1016/j.jcpa.2012.05.014. | |
| 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. | |
| 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. | |
| 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. : |
| Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophy. Mol Vis 9:601-5, 2003. Pubmed reference: 14627956. | |
| 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. | |
| 2002 | Augusteyn, R.C. : |
| Genetic testing for progressive retinal atrophy in Irish Setters, an update Australian Veterinary Journal 80:503, 2002. Pubmed reference: 12224622. | |
| 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. | |
| 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. | |
| Dekomien, G., Epplen, J.T. : | |
| 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. Mol Vis 8:138-42, 2002. Pubmed reference: 12091798. | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| Anon. : | |
| Researchers discover likely link between human, canine gene and blindness American Journal of Veterinary Research 59:525-526, 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. | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| 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. | |
| Hilsenroth, R. : | |
| Progressive retinal atrophy Canine Practice 20:1, 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. | |
| 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. | |
| Christmas, R.E. : | |
| Common ocular problems of Shin Tzu dogs. Can Vet J 33:390-3, 1992. Pubmed reference: 17424020. | |
| 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. | |
| 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. | |
| Barnett, K.C. : | |
| Canine retinopathies. II. The Miniature and Toy Poodle Journal of Small Animal Practice 6:93-109, 1965. | |
| Barnett, K.C. : | |
| Canine retinopathies. III. The other breeds Journal of Small Animal Practice 6:185-196, 1965. | |
| Barnett, K.C. : | |
| Canine retinopathies. IV. Causes of retinal atrophy Journal of Small Animal Practice 6:229-242, 1965. |
Edit History
- Created by Frank Nicholas on 12 Sep 2005
- Changed by Frank Nicholas on 08 Dec 2011
- Changed by Frank Nicholas on 28 Aug 2013
- Changed by Frank Nicholas on 11 Sep 2013
- Changed by Frank Nicholas on 08 Jun 2017
- Changed by Frank Nicholas on 03 Jun 2019
- Changed by Imke Tammen2 on 22 May 2022
- Changed by Imke Tammen2 on 16 Jun 2023