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.