Other Names: Golden Retriever PRA2, PRA-GR2
Affected Gene: TTC8
Transmission: Autosomal Recessive
Mutation: CanFam3.1 8 g.60090186del c.669delA
OMIA Link: 001984-9615


Breeds Recommended for Testing: Golden Retriever


References:
Downs LM, Hitti R, Pregnolato S, Mellersh CS. Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds.
Vet Ophthalmol. 2014 Mar;17(2):126-30. DOI: 10.1111/vop.12122. Epub 2013 Nov 21.
Downs LM, Wallin-Håkansson B, Bergström T, Mellersh CS. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever.
Canine Genet Epidemiol. 2014 Apr 16;1:4.
Makelainen S, Hellsand M, van der Heiden AD, Andersson E, Thorsson E, Holst BS, Haggstrom J, Ljungvall I, Mellersh C, Hallbrook F, Andersson G, Ekesten B, Bergstrom TF. Deletion in the Bardet–Biedl Syndrome Gene TTC8 Results in a Syndromic Retinal Degeneration in Dogs.
Genes (Basel). 2020 Sep 18;11(9):1090. DOI: 10.3390/genes11091090.