OMIA:001575-9615 : Retinal atrophy - Rod-cone dysplasia 4 in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 613428 (trait) , 613425 (gene)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2013

Cross-species summary: This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012)

Species-specific name: progressive retinal atrophy

Species-specific symbol: rcd4

Mapping: Using a GWAS on 16 cases and 22 controls in the Gordon Setter breed, Downs et al. (2013) mapped this disorder to 3.2 Mb region on chromosome CFA17.

Molecular basis: Downs et al. (2013) reported the causal mutation of this type of progressive retinal atrophy in Gordon Setter and Irish Setters as being a frameshift mutation (c.3149_3150insC) in the gene C2orf71 (now called C17H2orf71 or photoreceptor cilium actin regulator, PCARE). However, this mutation does not account for all cases, indicating that there are more causal mutations yet to be discovered. Downs et al. (2014) reported the same likely causal variant in Standard Poodles and Tibetan Terriers. Svensson et al. (2016) reported the same likely causal variant in most (but not all) cases in the Polski Owczarek Nizinny breed. Karlskov-Mortensen et al. (2018) reported the same likely causal variant in the Old Danish Pointing Dog, Miniature Poodles and the Polski Owczarek Podhalanski breed, noting that (given the widespread occurrence in many breeds) the variant must have come into existence prior to the creation of modern dog breeds.

Genetic testing: A DNA test for this disorder is provided by the UK Animal Health Trust. Details are available at:

Breeds: Gordon Setter (Dog) (VBO_0200613), Irish Setter (Dog) (VBO_0200702), Old Danish Pointing Dog (Dog) (VBO_0000668), Polish Lowland Sheepdog (Dog) (VBO_0201035), Polish Tatra Sheepdog (Dog) (VBO_0201037), Poodle, Miniature (Dog) (VBO_0201051), Poodle, Standard (Dog) (VBO_0201056), Tibetan Terrier (Dog) (VBO_0201353).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PCARE photoreceptor cilium actin regulator Canis lupus familiaris - no genomic information (-..-) PCARE Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
583 Gordon Setter (Dog) Irish Setter (Dog) Old Danish Pointing Dog (Dog) Polish Lowland Sheepdog (Dog) Polish Tatra Sheepdog (Dog) Poodle, Miniature (Dog) Poodle, Standard (Dog) Tibetan Terrier (Dog) Rod-cone dysplasia 4 PCARE insertion, small (<=20) Naturally occurring variant CanFam3.1 17 g.22907394_22907395insG c.3149_3150insC p.(C1051Vfs*90) NM_001284459.1; NP_001271388.1; genomic position adjusted based on HGVS 3' rule; EVA variant with equivalent alleles: rs397510935 rs1152388416 2013 22686255

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001575-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Ghilardi, S., Bagardi, M., Frattini, S., Barbariga, G.E., Brambilla, P.G., Minozzi, G., Polli, M. :
Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open 10:e77, 2023. Pubmed reference: 38028226. DOI: 10.1002/vro2.77.
2021 Genetics Committee of the American College of Veterinary Opthalmologists :
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition , 2021.
2019 Lewis, T.W., Mellersh, C.S. :
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096. DOI: 10.1371/journal.pone.0209864.
2018 Karlskov-Mortensen, P., Proschowsky, H.F., Gao, F., Fredholm, M. :
Identification of the mutation causing progressive retinal atrophy in Old Danish Pointing Dog. Anim Genet 49:237-241, 2018. Pubmed reference: 29624701. DOI: 10.1111/age.12659.
2016 Svensson, M., Olsén, L., Winkler, P.A., Petersen-Jones, S.M., Bergström, T., Garncarz, Y., Narfström, K. :
Progressive retinal atrophy in the Polski Owczarek Nizinny dog: a clinical and genetic study. Vet Ophthalmol 19:195-205, 2016. Pubmed reference: 26009980. DOI: 10.1111/vop.12284.
2014 Downs, L.M., Hitti, R., Pregnolato, S., Mellersh, C.S. :
Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds. Vet Ophthalmol 17:126-30, 2014. Pubmed reference: 24255994. DOI: 10.1111/vop.12122.
2013 Downs, L.M., Bell, J.S., Freeman, J., Hartley, C., Hayward, L.J., Mellersh, C.S. :
Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71. Anim Genet 44:169-77, 2013. Pubmed reference: 22686255. DOI: 10.1111/j.1365-2052.2012.02379.x.
2012 Miyadera, K., Acland, G.M., Aguirre, G.D. :
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome 23:40-61, 2012. Pubmed reference: 22065099. DOI: 10.1007/s00335-011-9361-3.
2011 [No authors listed] :
Inherited disease: new DNA test to help detect PRA mutation in Gordon setters. Vet Rec 168:175, 2011. Pubmed reference: 21493523. DOI: 10.1136/vr.d1014.

Edit History

  • Created by Frank Nicholas on 13 Jul 2011
  • Changed by Frank Nicholas on 02 Dec 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 01 Jul 2012
  • Changed by Frank Nicholas on 20 May 2013
  • Changed by Frank Nicholas on 17 Jun 2013
  • Changed by Frank Nicholas on 09 Apr 2018
  • Changed by Imke Tammen2 on 19 Apr 2021
  • Changed by Imke Tammen2 on 05 Jun 2023
  • Changed by Imke Tammen2 on 16 Jun 2023