Table 1. Examples of canine retinal diseases with clinical and/or molecular characterization.
| Disease name | Disease symbol | Breed | Gene | Gene function | Mutation | Approach | References |
|---|---|---|---|---|---|---|---|
| Progressive disorders | |||||||
| Progressive retinal atrophy (PRA) | |||||||
| Rod–cone dysplasia 1 | rcdl | Irish setter | PDE6B | Phototransduction | G2426A (W807X) | Candidate gene | Aguirre et al. 1978; Clements et al. 1993; Farber et al. 1992; Parry 1953a, b; Ray et al. 1994; Suber et al. 1993 |
| Rod–cone dysplasia la | rcdla | Sloughi | PDE6B | Phototransduction | 8-bp ins, exon 21 | Candidate gene | Dekomien et al. 2000 |
| Rod–cone dysplasia 2 | rcd2 | Collie | RD3 | Phototransduction | 22-bp ins, exon 4 | LA (colony) | Acland et al. 1989; Kukekova et al. 2006, 2009; Woodford et al. 1982 |
| Rod–cone dysplasia 3 | rcd3 | Cardigan Welsh corgi | PDE6A | Phototransduction | 1-bp del, exon 15 | Candidate gene | Petersen-Jones et al. 1999 |
| Rod–cone dysplasia 4 | rcd4 | Gordon/Irish setter | – | – | – | GWAS (pet) | Mellersh, personal communication |
| Rod dysplasiaa | rd | Norwegian elkhound | N.D. | – | – | – | Aguirre 1978 |
| Early retinal degeneration | erd | Norwegian elkhound | STK38L | N.D. | SINE ins, exon 4 | LA (colony) | Acland and Aguirre 1987; Acland et al. 1989, 1999; Goldstein et al. 2010b |
| Progressive rod–cone degeneration | prcd | 22 breedsb | PRCD | N.D. | G5A (C2Y) | LA (colony) | Acland et al. 1998; Aguirre and Acland 1988; Aguirre et al. 1982a; Goldstein et al. 2006; Sidjanin et al. 2003; Zangerl et al. 2006 |
| Golden retriever PRA 1 | GR_PRA1 | Golden retriever | SLC4A3 | Anion exchange | 1-bp ins, exon 16 | GWAS (pet) | Downs et al. 2011 |
| X–linked PRA 1 | XLPRA1 | Samoyed, Siberian Husky | RPGR | Cilia trafficking | 5-bp del, exon ORF15 | LA (colony) | Acland et al. 1994; Zeiss et al. 1999; Zhang et al. 2000, 2001, 2002 |
| X–linked PRA 2 | XLPRA2 | Mongrel | RPGR | Cilia trafficking | 2-bp del, exon ORF15 | LA (colony) | Zhang et al. 2002 |
| Autosomal dominant PRA | ADPRA | Bullmastiff, English mastiff | RHO | Phototransduction | C147G (T4R) | Candidate gene | Kijas et al. 2002, 2003 |
| Generalized PRAc | (gPRASPD) | Schapendoes | CCDC66 | N.D. | 1-bp ins, exon 6 | LA (colony) | Dekomien et al. 2010; Lippmann et al. 2007 |
| Cone–rod dystrophy (CRD) | |||||||
| Cone–rod dystrophy | crdl | American Staffordshire terrier | N.D. | – | – | – | Kijas et al. 2004 |
| Cone-rod dystrophy | crd2 | American pit bull terrieir | N.D. | – | – | – | Kijas et al. 2004 |
| Cone–rod dystrophy | crd3 | Glen of Imaal | ADAM9 | N.D. | 23-kb del (removal of exons 15-16) | GWAS (pet, colony) | Goldstein et al. 2010c; Kropatsch et al. 2010 |
| Cone-rod dystrophy | cordl (crd4) | Miniature longhaired dachshund | RPGRIP1 | Cilia trafficking | 44-bp ins, exon 2 | LA (colony) GWAS (pet) | Barnett 1965; Curtis and Barnett 1993; Mellersh et al. 2006; Miyadera et al. 2010; Turney et al. 2007 |
| Cone–rod dystrophy | (CRDSWHD) | Standard wirehaired dachshund | NPHP4 | Cilia trafficking | 180-bp del, exon/intron 5 | GWAS (colony) | Ropstad et al. 2007, 2008; Wiik et al. 2008 |
| Stationary disorders | |||||||
| Achromatopsia (cone degeneration, hemeralopia) | cdAMAL | 3 breedsd | CNGB3 | Phototransduction | 140-kb del (removal of all exons) | LA (colony) | Rubin et al. 1967; Sidjanin et al. 2002 |
| Achromatopsia (cone degeneration, hemeralopia) | cdGSPT | German shorthaired pointer | CNGB3 | Phototransduction | G808A (D262N) | LA (colony) | Sidjanin et al. 2002 |
| Canine LCA (congenital stationary night blindness) | cLCA (csnb) | Briard | RPE65 | Visual cycle | 4-bp del, exon 5 | Candidate gene | Aguirre et al. 1998; Narfström et al. 1989; Veske et al. 1999; Wrigstad et al. 1994 |
| Developmental disorders | |||||||
| Oculoskeletal dysplasia 1 | osdl (drdl) | Labrador retriever | COL9A3 | Collagen formation | 1-bp ins, exon 1 | LA (colony) | Acland and Aguirre 1995; Carrig et al. 1988; Goldstein et al. 2010a |
| Oculoskeletal dysplasia 2 | osd2 (drd2) | Samoyed | COL9A2 | Collagen formation | 1,267-bp del (removal of exon 1) | LA (colony) | Acland and Aguirre 1995; Goldstein et al. 2010a; Meyers et al. 1983 |
| Collie eye anomaly | cea | 9 breedse | NHEJ1 | N.D. | 7.8-kb del, intron 4 | LA (colony) | Lowe et al. 2003; Parker et al. 2007 |
| Others | |||||||
| Canine multifocal retinopathy 1 | cmrl | 9 breedsf | BEST1 | Epithelial transport | C73T (R25X) | Candidate gene | Guziewicz et al. 2007 |
| Canine multifocal retinopathy 2 | cmr2 | Coton de Tulear | BEST1 | Epithelial transport | G482A (G161D) | Candidate gene | Guziewicz et al. 2007 |
| Canine multifocal retinopathy 3 | cmr3 | Lapponian herder | BEST1 | Epithelial transport | 1-bp del, exon 10; G1466T (G489V) | Candidate gene | Zangerl et al. 2010 |
Disease symbols shown in parentheses are either alias symbols or diseases that the symbol names have not been described previously. 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
The original colony of rd dogs is extinct
Breeds affected with prcd: American cocker spaniel, American Eskimo dog, Australian cattle dog, Australian shepherd, Australian stumpy tail cattle dog, Chesapeake Bay retriever, Chinese crested, English cocker spaniel, Entlebucher mountain dog, Finnish Lapphund, Golden retriever, Karelian bear dog, Kuvasz, Labrador retriever, Lapponian herder, Norwegian elkhound, Poodle (miniature and toy), Nova Scotia duck tolling retriever, Portuguese water dog, Spanish water dog, Swedish Lapphund, Yorkshire terrier
Generalized PRA (gPRA) is a collective term previously used to describe inherited diseases affecting the dog neural retina. This was used to differentiate the diseases from central PRA (cPRA) which is likely a nutritional defect and affects the RPE
Breeds affected with cdAMAL: Alaskan Malamute, Miniature Australian shepherd, Siberian Husky
Breeds affected with cea: Australian shepherd, Boykin spaniel, Border collie, Lancashire heeler, Nova Scotia duck tolling retriever, Rough and Smooth collie, Shetland sheepdog, Silken windhound, Longhaired whippet
Breeds affected with cmrl: Australian shepherd, Cane Corso, Dogue de Bordeaux, Great Pyrenees, Bullmastiff, English mastiff, Perro de Presa Canario, and English and American bulldog