Genes & Retinal Diseases


 
Genes associated with inherited retinal diseases in companion animals
Gene Animal disease Breed Genetic variant Human diseaseReference
ABCA4 Canine STGD
 Labrador retriever c.4176_4177insCStargardt diseaseMakelainen et al. 2019
ADAM9 PRA-crd3
Glen of Imaal c.1592_1881delCRDGoldstein et al. 2010
AIPL1
PRAPersian catc.577C>TLCA
Lyons et al. 2016
BBS4 PRA
Hungarian Puli c.58A>TRPChew et al. 2017
BEST1Canine multifocal retinopathy 1 (cmr1)
Bullmastiff, 17+ other breedsc.73C>T Best diseaseGuziewicz et al. 2007
BEST1Canine multifocal retinopathy 2 (cmr2)
Coton de Tulearc.482G>A
Best disease
Guziewicz et al. 2007
BEST1Canine multifocal retinopathy 3 (cmr3)
Lapponian herder, Finnish Lapphundc.1388del, c.1466G>T
Best disease Zangerl et al. 2010
CCDC66PRA
Schapendoesrod-cone degeneration (rcd4)/PRARPDekomien et al. 2010
CCDC66Early-onset PRA (EOPRA)
Portuguese Water Dogc.2262_2263insARPMurgiano et al. 2020
CEP290PRAAbyssinian catIVS50 + 9T>G
RPMenotti-Raymond et al. 2007
CNGA1PRAShetland sheepdogc.1752_1755delRPWiik et al. 2015
CNGA3Achromatopsia, day blindness, CD
German Shepherd, Labrador Retrieverc.1270C>T, c.1931_1933delAchromatopsia
Tanaka et al. 2015
CNGB1PRA, PRA1
Papillon, Phalènec.2387del, c.2389_2390ins(6)RPWinkler et al. 2013
CNGB3Achromatopsia, day blindness, CD
German Shorthaired Pointer c.784G>AAchromatopsiaSidjanin et al. 2002
CNGB3Achromatopsia, 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 Retrieverc.6_11insG-Goldstein et al. 2010
COL9A3Okuloskeletal dysplasiaNorthern Inuit Dogc.700C>T
Stickler Syndrome

Stavinohova et al. 2019

CRXPRA, autosomal dominantAbyssinian catc.546delC
LCA, ADRP
Menotti-Raymond et al. 2010
C2orf71 PRA-rcd4Gordon/Irish/English Setters, 11+ other breeds
c.3149_3150insC
RP Downs et al. 2013
FAM161APRA, PRA3
Tibetan Spaniel, Tibetan Terrier
c.1758-15_1758-16ins(238)
RPDowns et al. 2014
IMPG2 PRA4Lhasa ApsoLINE-1 (~1.9kb) insertion
RPHitti-Malin et al. 2020
KIF3B PRABengal Catc.1000G>A
Ciliopathy
Cogne et al. 2020
LRIT3 CSNBBeaglec.762_763del
CSNBDas et al. 2019
MAP9 PRA-cord1 modifier
Miniature Longhaired Dachshund
22kb del spanning exon 11-14
CRD, LCA
Forman et al. 2016
MERTKPRA, Swedish Vallhund retinopathy
Swedish Vallhund
6.4kb LINE ins in intron 1-Everson et al. 2017
NECAP1PRAGiant Schnauzerc.544G>A
RPHitti et al. 2019
NHEJ1 Collie eye anomaly (cea)
Collie, Shetland Sheepdog, 23+ other breeds
7.8kb del in intron 4
-Parker et al. 2007
NPHP4 PRA-crdStandard Wirehaired Dachshund180bp del in exon/intron 5
CRDWiik et al. 2008
NPHP5PRA-crd2
American Pit Bull Terrier
c.952_953insC
LCAGoldstein et al. 2013
PDE6APRA-rcd3
Cardigan Welsh Corgi, 4+ other breeds
c.1939del
RP
Petersen-Jones et al. 1999
PDE6BPRA-rcd1
Irish Setter
c.2420G>A
RP
Suber et al. 1993
PDE6B PRA-rcd1aSloughic.2449_2450ins(8)
RPDekomian et al. 2000
PDE6BPRA-crd1American Staffordshire Terrierc.2404_2406delRPGoldstein et al. 2013
PDE6BEarly-onset PRA
Spanish Water Dog
c.2218_2223del
RPWinkler et al. 2020
PPT1PRAMiniature Schnauzer
11kb dup spanning exon 5 with conv/ins
RPMurgiano et al. 2019
PRCD PRA-prcdToy Poodle, Yorkshire Terrier, 50+ other breedsc.5G>ARPZangerl et al. 2006
RD3 PRA-rcd2Colliec.418_419ins(22)
RPKukekova et al. 2009
RHO PRA-adPRA
Bullmastiff, English Mastiff
c.11C>G
ADRP
Kijas et al. 2002
RPE65Canine LCA, f.k.a. CSNB
Briard
c.487_490del
LCA, RP
Aguirre et al. 1998
RPGRPRA, XLPRA1
Samoyed, Siberian Husky
c.1084_1085del
XLRP
Zhang et al. 2002
RPGR
PRA, XLPRA2Miniature Schnauzer
c.1028_1032del
XLRP
Zhang et al. 2002
RPGR PRA, XLPRA
Weimaraner
5kb del spanning exon 1-4
XLRP
Kropatsch et al. 2016
RPGRIP1PRA-cord1, PRA-crd4
Miniature Longhaired Dachshund, other breeds
c.142_143ins(44)
CRD, LCA
Mellersh et al. 2006
SAGPRABasenjic.1216T>CRPGoldstein et al. 2013
SIX6 Congenital eye malformationsGolden Retrieverc.487C>T-Hug et al. 2019
SLC4A3PRA, GR-PRA1
Golden Retriever, Lhasa Apso
c.2601_2602insC 
RPDowns et al. 2011
STK38L PRA-erd
Norwegian Elkhound
c.299_300insSINE
RPGoldstein et al. 2010
TTC8 PRA, GR-PRA2
Golden Retriever
c.669delBBSDowns et al. 2014
-CSNB, PRA
Whippet--Somma et al. 2017
-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; 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