Progressive rod-cone degeneration
Symptoms Progressive loss of vision (at night and then in daylight) culminating in blindness
Gene involved PDC
Mutation tested c.244C>G
Transmission mode : Autosomal recessive
Publication : Zhang et al. (1998). Characterization of canine photoreceptor phosducin cDNA and identification of a sequence variant in dogs with photoreceptor dysplasia.
Gene involved HIVEP3
Mutation tested g.1432293G>A (B1-PRA)
Transmission mode : Autosomal recessive
Publication : Kaukonen et al. (2020). A putative silencer variant in a spontaneous canine model of retinitis pigmentosa.
Gene involved SAG
Mutation tested c.1216T>C (bas-PRA)
Transmission mode : Autosomal recessive
Publication : Goldstein et al. (2013). A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs.
Gene involved NPHP4
Mutation tested 180-bp deletion (PRA-crd)
Transmission mode : Autosomal recessive
Publication : Wiik et al. (2008). A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund.
Gene involved PDE6B
Mutation tested c.2404-2406delAAC (PRA-crd1)
Transmission mode : Autosomal recessive
Publication : Goldstein et al. (2013). IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.
Gene involved IQCB1
Mutation tested c.952-953insC (PRA-crd2)
Transmission mode : Autosomal recessive
Publication : Goldstein et al. (2013). IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.
Gene involved PDE6B
Mutation tested c.2447insTGAAGTCC (PRA-pde6b)
Transmission mode : Autosomal recessive
Publication : Dekomien et al. (2000). Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene.
Gene involved PRCD
Mutation tested c.5G>A (PRA-prcd)
Transmission mode : Autosomal recessive
Publication : Goldstein et al. (2006). Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome.
Gene involved PDE6B
Mutation tested c.2420G>A (rcd1-PRA)
Transmission mode : Autosomal recessive
Publication : Suber et al. (1993). Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene.
Gene involved PDE6A
Mutation tested c.1940delA (rcd3-PRA)
Transmission mode : Autosomal recessive
Publication : Petersen-Jones et al. (1999). CGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh Corgi dog.
Gene involved C2orf71
Mutation tested c.3149_3150insC (rcd4-PRA)
Transmission mode : Autosomal recessive
Publication : Downs et al. (2013). Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.
Gene involved RHO
Mutation tested c.11C>G (ADPRA)
Transmission mode : Autosomal dominant
Publication : Kijas et al. (2003). Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds.
Gene involved RPGR
Mutation tested c.1028_1032del (XLPRA1)
Transmission mode : X-linked recessive
Publication : Zhang et al. (2002). Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
Gene involved CNGA1
Mutation tested c.1752_1755delAACT (shet-PRA)
Transmission mode : Autosomal recessive
Publication : Wiik et al. (2015). Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in the CNGA1 gene.
Gene involved CNGB1
Mutation tested c.2685delA2687_2688insTA GCTA (pap-PRA1)
Transmission mode : Autosomal recessive
Publication : Ahonen et al. (2013). A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.
Gene involved SLC4A3
Mutation tested c.2601_2602insC (GR-PRA1)
Transmission mode : Autosomal recessive
Publication : Downs et al. (2011). A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations.
Gene involved TTC8
Mutation tested c.699delA (GR-PRA2)
Transmission mode : Autosomal recessive
Publication : Downs et al. (2014). A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever.
Gene involved IFT122
Mutation tested c.3176G>A (APR-ift122)
Transmission mode : Autosomal recessive
Publication : Kaukonen et al. (2021). A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Gene involved ABCA4
Mutation tested c.4176insC (STGD)
Transmission mode : Autosomal recessive
Publication : Mäkeläinen et al. (2019). An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
Gene involved FAM161A
Mutation tested c.1758-15_1758-16ins238 (PRA3)
Transmission mode : Autosomal recessive
Publication : Downs et al. (2014). An intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers.
Gene involved IMPG2
Mutation tested LINE-1 insertion (PRA4)
Transmission mode : Autosomal recessive
Publication : Hitti-Malin et al. (2020). A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.