Genes & Retinal Diseases
| Gene | Animal disease | Breed | Genetic variant | Human disease | Reference |
|---|---|---|---|---|---|
| ABCA4 | Canine STGD | Labrador retriever | c.4176_4177insC | Stargardt disease | Makelainen et al. 2019 |
| ADAM9 | PRA-crd3 | Glen of Imaal | c.1592_1881del | CRD | Goldstein et al. 2010 |
| AIPL1 | PRA | Persian cat | c.577C>T | LCA | Lyons et al. 2016 |
| AMPD2 | PRA syndromic | Cirneco dell’Etna | c.2131delG | Pontocerebellar Hypoplasia | Murgiano et al. 2024 |
| BBS2 | PRA syndromic | Shetland Sheepdog | c.1222G>C | BBS | Hitti-Malin et al. 2020 |
| BBS4 | PRA | Hungarian Puli | c.58A>T | RP | Chew et al. 2017 |
| BEST1 | Canine multifocal retinopathy 1 (cmr1) | Bullmastiff, 17+ other breeds | c.73C>T | Best disease | Guziewicz et al. 2007 |
| BEST1 | Canine multifocal retinopathy 2 (cmr2) | Coton de Tulear | c.482G>A | Best disease | Guziewicz et al. 2007 |
| BEST1 | Canine multifocal retinopathy 3 (cmr3) | Lapponian herder, Finnish Lapphund | c.1388del, c.1466G>T | Best disease | Zangerl et al. 2010 |
| CABP4 | PRA | Whippet | NA | Cone-rod synaptic disorder, congenital nonprogressive | Somma et al. 2017; Beckwith-Cohen et al. 2022 |
| CCDC66 | PRA | Schapendoes | rod-cone degeneration (rcd4)/PRA | RP | Dekomien et al. 2010 |
| CCDC66 | Early-onset PRA (EOPRA) | Portuguese Water Dog | c.2262_2263insA | RP | Murgiano et al. 2020 |
| CEP290 | PRA | Abyssinian cat | IVS50 + 9T>G | RP | Menotti-Raymond et al. 2007 |
| CNGA1 | PRA | Shetland sheepdog | c.1752_1755del | RP | Wiik et al. 2015 |
| CNGA3 | Achromatopsia, day blindness, CD | German Shepherd, Labrador Retriever | c.1270C>T, c.1931_1933del | Achromatopsia | Tanaka et al. 2015 |
| CNGB1 | PRA, PRA1 | Papillon, Phalène | c.2387del, c.2389_2390ins(6) | RP | Winkler et al. 2013 |
| CNGB3 | Achromatopsia, day blindness, CD | German Shorthaired Pointer | c.784G>A | Achromatopsia | Sidjanin et al. 2002 |
| CNGB3 | Achromatopsia, day blindness, CD | Alaskan Malamute, 8+ other breeds | 405kb del spanning all exons | Achromatopsia | Sidjanin et al. 2002 |
| COL9A2 | Oculoskeletal dysplasia 2 (osd2) | Samoyed | 1267 del spanning 5’UTR and exon 1 | – | Goldstein et al. 2010 |
| COL9A3 | Oculoskeletal dysplasia 1 (osd1) | Labrador Retriever | c.6_11insG | – | Goldstein et al. 2010 |
| COL9A3 | Okuloskeletal dysplasia | Northern Inuit Dog | c.700C>T | Stickler Syndrome | Stavinohova et al. 2019 |
| CRX | PRA, autosomal dominant | Abyssinian cat | c.546delC | LCA, ADRP | Menotti-Raymond et al. 2010 |
| C2orf71/PCARE | PRA-rcd4 | Gordon/Irish/English Setters, 11+ other breeds | c.3149_3150insC | RP | Downs et al. 2013 |
| FAM161A | PRA, PRA3 | Tibetan Spaniel, Tibetan Terrier | c.1758-15_1758-16ins(238) | RP | Downs et al. 2014 |
| GTPBP2 | PRA, recessive non-syndromic | Labrador Retriever | c.1606_1608del, p.Ala536del | Jaberi-Elahi syndrome (incl. PRA) | Murgiano et al. 2025 |
| GUCY2D | PRA | German Spitz | c.1598_1599insT | LCA, CRD | Bortolini et al. 2023 |
| IFT122 | Late-onset PRA | Lapponian herders, innish Lapphunds | c.3176G>A | Cranioectodermal dysplasia (no RP) | Kaukonen et al. 2023 |
| IMPG2 | PRA4 | Lhasa Apso | LINE-1 (~1.9kb) insertion | RP | Hitti-Malin et al. 2020 |
| JPH2 | PRA | Shih Tzu | c.452A>C | Cardiomyopathy (?) | Urkasemsin et al. 2021 |
| KIF3B | PRA | Bengal Cat | c.1000G>A | Ciliopathy | Cogne et al. 2020 |
| LRIT3 | CSNB | Beagle | c.762_763del | CSNB | Das et al. 2019 |
| MAP9 | PRA-cord1 modifier | Miniature Longhaired Dachshund | 22kb del spanning exon 11-14 | CRD, LCA | Forman et al. 2016 |
| MERTK | PRA, Swedish Vallhund retinopathy | Swedish Vallhund | 6.4kb LINE ins in intron 1 | – | Everson et al. 2017 |
| MIA3 | PRA (syndromic) | Cane Corso | c.3822+3_3822+4del | Ondontochondrodysplasia + hearing loss + diabetes | Christen et al 2021 |
| NECAP1 | PRA | Giant Schnauzer | c.544G>A | RP | Hitti et al. 2019 |
| NHEJ1 | Collie eye anomaly (cea) | Collie, Shetland Sheepdog, 23+ other breeds | 7.8kb del in intron 4 | – | Parker et al. 2007 |
| NPD | XLRD and MOD | English Cocker Spaniel | c.653_654insC | Niemann-Pick disease | Joyce et al. 2021 |
| NPHP4 | PRA-crd | Standard Wirehaired Dachshund | 180bp del in exon/intron 5 | CRD | Wiik et al. 2008 |
| NPHP5 | PRA-crd2 | American Pit Bull Terrier | c.952_953insC | LCA | Goldstein et al. 2013 |
| PCYT2 | Syndromic PRA | Saarlooswolfdog | c.4A>G | Spastic paraplegia, polyneuropathy | Christen et al. 2024 |
| PDE6A | PRA-rcd3 | Cardigan Welsh Corgi, 4+ other breeds | c.1939del | RP | Petersen-Jones et al. 1999 |
| PDE6B | PRA-rcd1 | Irish Setter | c.2420G>A | RP | Suber et al. 1993 |
| PDE6B | PRA-rcd1a | Sloughi | c.2449_2450ins(8) | RP | Dekomian et al. 2000 |
| PDE6B | PRA-crd1 | American Staffordshire Terrier | c.2404_2406del | RP | Goldstein et al. 2013 |
| PDE6B | Early-onset PRA | Spanish Water Dog | c.2218_2223del | RP | Winkler et al. 2020 |
| PPT1 | PRA | Miniature Schnauzer | 11kb dup spanning exon 5 with conv/ins | RP | Murgiano et al. 2019 |
| PRCD | PRA-prcd | Toy Poodle, Yorkshire Terrier, 50+ other breeds | c.5G>A | RP | Zangerl et al. 2006 |
| RD3 | PRA-rcd2 | Collie | c.418_419ins(22) | RP | Kukekova et al. 2009 |
| RHO | PRA-adPRA | Bullmastiff, English Mastiff | c.11C>G | ADRP | Kijas et al. 2002 |
| RPE65 | Canine LCA, f.k.a. CSNB | Briard | c.487_490del | LCA, RP | Aguirre et al. 1998 |
| RPGR | PRA, XLPRA1 | Samoyed, Siberian Husky | c.1084_1085del | XLRP | Zhang et al. 2002 |
| RPGR | PRA, XLPRA2 | Miniature Schnauzer | c.1028_1032del | XLRP | Zhang et al. 2002 |
| RPGR | PRA, XLPRA | Weimaraner | 5kb del spanning exon 1-4 | XLRP | Kropatsch et al. 2016 |
| RPGRIP1 | PRA-cord1, PRA-crd4 | Miniature Longhaired Dachshund, +23 other breeds | c.142_143ins(44) | CRD, LCA | Mellersh et al. 2006 |
| SAG | PRA | Basenji | c.1216T>C | RP | Goldstein et al. 2013 |
| SIX6 | Congenital eye malformations | Golden Retriever | c.487C>T | – | Hug et al. 2019 |
| SLC4A3 | PRA, GR-PRA1 | Golden Retriever, Lhasa Apso | c.2601_2602insC | RP | Downs et al. 2011 |
| STK38L | PRA-erd | Norwegian Elkhound | c.299_300insSINE | RP | Goldstein et al. 2010 |
| TTC8 | PRA, GR-PRA2 | Golden Retriever | c.669del | BBS | Downs et al. 2014 |
| – | PRA, IG-PRA1 | Italian Greyhound | – | – | Goldstein et al. 2011 |
*All genes that are bolded were identified by members of the Division of Experimental Retinal Therapies.
** adPRA, autosomal dominant PRA; BBS, Bardet-Biedl syndrome; CD, cone degeneration; cord1, cone-rod dystrophy 1; CRD, cone-rod dystrophy; crd1/2/3/4, cone-rod dystrophy 1/2/3/4;CSNB, congenital stationary night blindness; erd, early retinal degeneration; LCA, Leber congenital amaurosis; MOD, multiple ocular diseases; PRA, progressive retinal atrophy; prcd, progressive rod-cone degeneration; rcd1/1a/2/3/4, rod-cone dysplasia 1/1a/2/3/4; RP, retinitis pigmentosa; STGD, Stargardt disease; XLPRA, X-linked PRA; XLRD, X-linked retinal dysplasia.