Table 1.
Canine retinal diseases and associated genes
| Disease Name | Disease Symbol |
Breed | Gene | Gene Function | Approach | References |
|---|---|---|---|---|---|---|
| Progressive Disorders | ||||||
| Progressive Retinal Atrophy (PRA) | ||||||
| Rod-cone dysplasia 1 | rcd1 | Irish Setter | PDE6B | Phototransduction | Candidate gene | (Clements et al. 1993; Suber et al. 1993) |
| Rod-cone dysplasia 1a | rcd1a | Sloughi | PDE6B | Phototransduction | Candidate gene | (Dekomien et al. 2000) |
| Rod-cone dysplasia 2 | rcd2 | Collie | RD3 | Phototransduction | LA | (Kukekova et al. 2009) |
| Rod-cone dysplasia 3 | rcd3 | Cardigan Welsh Corgi | PDE6A | Phototransduction | Candidate gene | (Petersen-Jones et al. 1999) |
| Rod-cone dysplasia 4 | rcd4 | Setters and othersa | C2orf71 | N.D. | GWAS | (Downs et al. 2013) |
| Early retinal degeneration | erd | Norwegian Elkhound | STK38L | N.D. | LA | (Goldstein et al. 2010b) |
| Progressive rod-cone degeneration | PRCD | Multiple breedsb | PRCD | N.D. | LA | (Zangerl et al. 2006) |
| Golden Retriever PRA 1 | GR_PRA1 | Golden Retriever | SLC4A3 | Anion exchange | GWAS | (Downs et al. 2011) |
| Golden Retriever PRA 2 | GR_PRA2 | Golden Retriever | TTC8 | Cilia formation | GWAS, targeted-NGS | (Downs et al. 2014) |
| X-linked PRA 1 | XLPRA1 | Samoyed, Siberian Husky | RPGR | Cilia trafficking | LA | (Zhang et al. 2002) |
| X-linked PRA 2 | XLPRA2 | Mongrel | RPGR | Cilia trafficking | LA | (Zhang et al. 2002) |
| Autosomal dominant PRA | ADPRA | Bullmastiff, English Mastiff | RHO | Phototransduction | Candidate gene | (Kijas et al. 2002) |
| Generalized PRA | gPRACCDC66 | Schapendoes | CCDC66 | N.D. | LA | (Dekomien et al. 2010) |
| Italian Greyhound PRA | IG_PRA1 | Italian Greyhound | - | - | - | (Goldstein, personal communication) |
| Papillon PRA | Pap_PRA1 | Papillon | CNGB1 | Phototransduction | (Ahonen et al. 2013; Winkler et al. 2013) | |
| Basenji PRA | Bas_PRA1 | Basenji | SAG | Phototransduction | GWAS | (Goldstein et al. 2013a) |
| PRA3 | PRA3 | Tibetan Spaniel/Terrier | FAM161A | Cilia trafficking | GWAS, targeted-NGS | (Downs and Mellersh. 2014) |
| Cone-Rod Dystrophy (CRD) | ||||||
| Cone-rod dystrophy | crd1 | American Staffordshire Terrier | PDE6B | Phototransduction | GWAS | (Goldstein et al. 2013b) |
| Cone-rod dystrophy | crd2 | American Pit Bull/Staffordshire Terrier | IQCB1 | Cilia trafficking | GWAS | (Goldstein et al. 2013b) |
| Cone-rod dystrophy | crd3 | Glen of Imaal Terrier | ADAM9 | N.D. | GWAS (pet, colony) | (Goldstein et al. 2010c) |
| Cone-rod dystrophy | cord1 | Miniature Longhaired/Smooth/Wirehaired Dachshunds | RPGRIP1 | Cilia trafficking | LA GWAS (modifier) |
(Mellersh et al. 2006; Miyadera et al. 2012) |
| Cone-rod dystrophy | CRDNPHP4 | Standard Wirehaired Dachshund | NPHP4 | Cilia trafficking | GWAS | (Wiik et al. 2008) |
| Stationary Disorders | ||||||
| Cone degeneration (achromatopsia, day blindness) | CD | Alaskan Malamute, Miniature Australian shepherd, Siberian Husky |
CNGB3 | Phototransduction | LA | (Sidjanin et al. 2002) |
| Cone degeneration (achromatopsia, day blindness) | CD | German Shorthaired Pointer | CNGB3 | Phototransduction | LA | (Sidjanin et al. 2002) |
| Canine LCA | cLCA | Briard | RPE65 | Visual cycle | Candidate gene | (Aguirre et al. 1998; Veske et al. 1999) |
| Developmental Disorders | ||||||
| Retinal dysplasia/Oculo-skeletal dysplasia 1 | RD/OSD1 | Labrador Retriever | COL9A3 | Collagen formation | LA | (Goldstein et al. 2010a) |
| Retinal dysplasia/Oculo-skeletal dysplasia 2 | RD/OSD2 | Samoyed | COL9A2 | Collagen formation | LA | (Goldstein et al. 2010a) |
| Collie eye anomaly | CEA | Collies and other breedsc | NHEJ1 | N.D. | LA | (Parker et al. 2007) |
| Others | ||||||
| Canine multifocal retinopathy 1 | CMR1 | Multiple breedsd | BEST1 | Epithelial transport | Candidate gene | (Guziewicz et al. 2007) |
| Canine multifocal retinopathy 2 | CMR2 | Coton de Tulear | BEST1 | Epithelial transport | Candidate gene | (Guziewicz et al. 2007) |
| Canine multifocal retinopathy 3 | CMR3 | Lapponian Herder | BEST1 | Epithelial transport | Candidate gene | (Zangerl et al. 2010) |
Modified from Miyadera et al. (2012a). The Approach column shows the method used to identify the chromosomal location and/or the gene, and the type of sample population used. LA, linkage analysis; N.D., not determined; GWAS, genome-wide association study.
rcd4-affected breeds: English/Gordon/Irish/Llwellyn Setters, Polish Lowland Sheepdog, Tibetan Terrier.
PRCD-affected breeds: American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Bolonka Zwetna, Chesapeake Bay Retriever, Chinese Crested, English Cocker Spaniel, English Shepherd, Entlebucher Mountain Dog, Finnish Lapphund, Giant Schnauzer, Golden Retriever, Karelian Bear Dog, Kuvasz, Labrador Retriever, Lapponian Herder, Norwegian Elkhound, Poodle (Miniature/Toy/Standard), Nova Scotia Duck Tolling Retriever, Portuguese Water Dog, Spanish Water Dog, Swedish Lapphund, Yorkshire Terrier.
CEA-affected breeds: Australian Shepherd, Bearded Collie, Boykin Spaniel, Border Collie, Hokkaido Dog, Lancashire Heeler, Nova Scotia Duck Tolling Retriever, Rough/Smooth Collie, Shetland Sheepdog, Silken Windhound, Longhaired Whippet.
CMR1-affected breeds: American Bulldog, Australian Shepherd, Boerboel, Bullmastiff, Cane Corso, Dogue de Bordeaux, Great Pyrenees, Old English Mastiff, Perro de Presa Canario, English/American Bulldog.