Canine Mendelian disease record

Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1)

Q: How well studied is Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1) in dogs?

OMIA curates 6 peer-reviewed references for Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1). The full, linked citation list is on this page.

Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1). Autosomal recessive. Observed in 6 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,631 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier: OMIA:001572-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-06-03.

Summary

This disorder has been previously renamed in OMIA on the basis of the review by Miyadera et al. (2012) and has been more recently renamed from the dog specific name 'Golden Retriever progressive retinal atrophy 1' to a cross-species name [25/11/2022].

Molecular genetics

By sequencing the most likely functional candidate gene from the candidate region (see Mapping section), Downs et al. (2011) identified a causal mutation as "a frame shift mutation [in SLC4A3] caused by the insertion of a single cytosine in exon 16 (c.2601_2602insC; CFA37:29,147,633). It is predicted to cause a premature stop codon in exon 18 (p.E868RfsX104) possibly resulting in degradation of the mRNA by nonsense-mediated decay (NMD) or a truncated protein product". Although this mutation is causal in the families in which it exists, it does not account for all cases of the disorder in this breed.

Human analog

OMIA links this condition to the human gene record in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Gene · OMIM 106195

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001572-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers.

Consensus guidelines for nomenclature of companion animal inherited retinal disorders. · Vet Ophthalmol · 2024 · PMID 38334230
Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. · Vet Rec Open · 2023 · PMID 38028226
Allele frequency of SLC4A3 (PRA1), TTC8 (PRA2), and PRA-prcd mutations in golden retrievers in Brazil. · Front Vet Sci · 2022 · PMID 36325094
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition · https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf · 2021
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. · Mamm Genome · 2012 · PMID 22065099
A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. · PLoS One · 2011 · PMID 21738669

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Predict a litter

Set each parent's status for Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1) and see the odds for their puppies. Single recessive variant, exact Mendelian math.

Parent A

Parent B

NNClear

NmCarrier

mmAffected

Clear25%

Carrier50%

Affected25%

These are the genetic odds for one known variant, not a promise: a real litter varies around them, and penetrance or other genes can change whether the condition ever appears. Use it to avoid pairing two carriers and to keep a line healthy, not to engineer a dog. Inheritance mode per OMIA.

Your breed

See what Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1) looks like in your dog's breed.

Carrier frequency by breed

Top 6 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

0%1%2%

Golden Retriever1.6% · n 12,860

1.6%n 12,860

Cavalier King Charles Spaniel0.18% · n 2,243

0.18%n 2,243

Great Pyrenees<0.1% · n 1,985

<0.1%n 1,985

Japanese Shiba Inu<0.1% · n 2,123

<0.1%n 2,123

Labrador Retriever<0.1% · n 16,855

<0.1%n 16,855

American Staffordshire Terrier<0.1% · n 42,789

<0.1%n 42,789

n = 78,855 dogs · Donner et al. 2023 carrier-screening cohort · Sniff Atlas

Each bar is one well-sampled breed; the whisker is its Wilson 95% CI, and fainter bars have wider intervals. Frequencies are population-level, not per-litter. Carrier status for Progressive Retinal Atrophy (Discovered in the Golden Retriever; GR_PRA1) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Golden Retriever	1.6%	[1.4%, 1.8%]	12,860
Cavalier King Charles Spaniel	0.18%	[0.1%, 0.5%]	2,243
Great Pyrenees	<0.1%	[0.0%, 0.2%]	1,985
Japanese Shiba Inu	<0.1%	[0.0%, 0.2%]	2,123
Labrador Retriever	<0.1%	[0.0%, 0.0%]	16,855
American Staffordshire Terrier	<0.1%	[0.0%, 0.0%]	42,789

260 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Sniff Atlas v1.0.1 for the per-breed carrier frequencies:
Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.
OMIA for the disease definition, inheritance, and gene assignment:
Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001572-9615.
Donner et al. 2023 for the breed × variant carrier-frequency cohort:
Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Sniff Atlas v1.0.1, the source dataset for these frequencies.
Browse breeds, per-breed Mendelian profiles, including this disease in context.
OMIA entry OMIA:001572-9615, authoritative clinical reference.
About OMIA, the catalogue this record comes from, and how Sniff uses it.

Last updated June 20, 2026

Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001572-9615 · Donner et al. 2023