Table 1.
Genes involved in canine retinopathies and in the Collie Eye anomaly, specifying the affected breeds and mutations.
| Gene | Chromosome | Disease | Affected breeds | Mutation | References |
|
PDE6B Phosphodiesterase β subunit |
CFA3 | Rod cone dysplasia Type 1 (rcd1 et rcd1a) |
Irish Setter (rcd1) | Nonsense W807X | [37] |
| Sloughi (rcd1a) | 8 nucleotide insertion | [38] | |||
|
PDE6A Phosphodiesterase α subunit |
CFA4 | Rod cone dysplasia Type 3 (rcd3) |
Cardigan Welsh Corgi | Del A1939 | [39] |
|
RHO Rhodopsin |
CFA20 | Dominant PRA | English Mastiff Bullmastiff |
T4R T4R |
[40] [41] |
|
PDC Phosducin |
CFA7 | Photoreceptors dysplasia (pd) Type A-PRA |
Miniature Schnauzer | R82G | [42] |
|
RPGR Retinitis Pigmentosa GTPase Regulator |
CFA X | X-Linked Progressive Retinal Atrophy 1 (XLPRA1) | Samoyed Siberian Husky |
Del GAGAA | [9] |
| X-Linked Progressive Retinal Atrophy 2 (XLPRA2) | Mongrel | Del GA | [9] | ||
|
CNGB3 Cyclic Nucleotide Gated channel β3 |
CFA29 | Achromatopsia-3 | Alaskan Malamute | Deletion removing all exons (Del 140 kb) | [43] |
| German Shorthaired Pointer | D262N | [43] | |||
|
RPE65 Retinal Pigment Epithelium-specific protein 65 kDa |
CFA6 | CSNB Congenital stationary night blindness |
Briard | DelAAGA | [44] |
|
NHEJ1 NonHomologous End-Joining factor1 |
CFA37 | CEA Collie Eye Anomaly |
8 breeds (1) | 7.8 kb deletion | [31] |
|
PRCD Progressive Rod Cone Degeneration |
CFA9 | PRCD Progressive Rod-Cone Degeneration |
22 breeds (2) | C2Y | [7] |
|
RPGRIP1 RPGR Interacting Protein 1 |
CFA15 | CORD1 Cone Rod Dystrophy 1 |
Miniature Longhaired Dachshund | 44 nucleotide insertion | [45] |
|
BEST1 Bestrophin 1 |
CFA18 | CMR Canine Multi-focal Retinopathy |
5 breeds (3) | R25X G161D |
[46] |
(1) Australian Shepherd, Border Collie, Lancashire Heeler, Nova Scotia DTR, Rough Collie, Shetland Sheepdog, Smooth Collie, Whippet: longhaired.
(2) American Cocker Spaniel, American Eskimo Dog, Australian Cattle Dog, Australian Shepherd, Australian Stumpy Tail Cattle Dog, Chesapeake Bay Retriever, Chinese Crested, Cockapoos, English Cocker Spaniel, Entelbucher Mountain Dog, Finnish Lapphund, Golden Retriever, Kuvasz, Labradoodle, Labrador Retriever, Lapponian Herder, Nova Scotia Duck Tolling Retriever, Poodle Miniature and Toy, Portuguese Water Dog, Spanish Water Dog, Swedish Lapphund.
(3) English Mastiff, Bullmastiff, Dogue de Bordeaux, Great Pyrenees, Coton de Tulear