The detail information of Progressive Retinal Atrophy
Basic Information

Abbreviated Name: PRA

Disease Description: Progressive Retinal Atrophy (PRA) is a collective term comprising a group of hereditary degenerative lesions of the retina.

Inherit Mode: -

Disease Symptom: Three distinct stages of the disease based on the severity of the clinical signs have been identified. Dogs in Stage 1 exhibit no clinical signs of vision loss. The stage 2 is mainly diagnosed at 6.2±3.1 years but changes were seen as early as 1.1 and as late as 12.6 years of age. While the majority of dogs with these degenerative changes did not appear to have vision problems initially, some owners reported that their dogs exhibited mild to moderate signs of night-blindness as the areas of retinal thinning expanded. Stage 3-changes were observed as early as 9.2 years and as late as 15.4 years. These dogs suffered from loss of night-vision and severely impaired day-vision; some dogs were assessed as completely blind by their owners.

Disease Cause: -

Disease Diagnose: -

Treat Method: -

Breeder Advice: -

Disease Description Source: Link

Associated Diseases
Disease Name Other Name Mode of inheritance Link ID Possible OMIM ID Gene
Progressive retinal atrophy, CCDC66 related Generalized PRA (gPRA), early‑onset progressive retinal atrophy Autosomal Recessive - CCDC66
Golden Retriever PRA 1 - Autosomal Recessive - SLC4A3
Golden Retriever PRA 2 - Autosomal Recessive TTC8
Associated Breeds
There are associated breeds.
References
2020 Murgiano,L.,Becker,D.,Spector,C.,Carlin,K.,Santana,E.,Niggel,J.K.,Jagannathan,V.,Leeb,T.,Pearce-Kelling,S.,Aguirre,G.D.,Miyadera,K.: :
CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep 10:21162, 2020.
Pubmed reference: 33273526 . DOI: 10.1038/s41598-020-77980-5 .
2016 Downs,L.M.,Aguirre,G.D.: :
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol 854:201-7, 2016.
Pubmed reference: 26427412 . DOI: 10.1007/978-3-319-17121-0_27 .
2014 Downs,L.M.,Wallin-Håkansson,B.,Bergström,T.,Mellersh,C.S.: :
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genet Epidemiol 1:4, 2014.
Pubmed reference: 26401321 . DOI: 10.1186/2052-6687-1-4 .
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 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 .
2011 Downs,L.M.,Wallin-Håkansson,B.,Boursnell,M.,Marklund,S.,Hedhammar,Å.,Truvé,K.,Hübinette,L.,Lindblad-Toh,K.,Bergström,T.,Mellersh,C.S.: :
A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One 6:e21452, 2011.
Pubmed reference: 21738669 . DOI: 10.1371/journal.pone.0021452 .
2010 Dekomien,G.,Vollrath,C.,Petrasch-Parwez,E.,Boevé,M.H.,Akkad,D.A.,Gerding,W.M.,Epplen,J.T.: :
Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene. Neurogenetics 11:163-74, 2010.
Pubmed reference: 19777273 . DOI: 10.1007/s10048-009-0223-z .
2007 Lippmann,T.,Jonkisz,A.,Dobosz,T.,Petrasch-Parwez,E.,Epplen,JT.,Dekomien,G.: :
Haplotype-defined linkage region for gPRA in Schapendoes dogs. Mol Vis 13:174-80, 2007.
Pubmed reference: 17327822 .