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Canine Mendelian disease record

Progressive Rod-Cone Degeneration (prcd-PRA)

Progressive Rod-Cone Degeneration (prcd-PRA). Autosomal recessive. Observed in 79 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,217 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:001298-9615
Inheritance
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
Carrier frequency by breed

Top 25 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.

Breed Carrier frequency n tested
Australian Cattle Dog 30.7% 980
Karelian Bear Dog 25.7% 68
American Eskimo Dog 16.9% 301
Schnauzer Giant 13.1% 229
Cocker Spaniel 13.0% 1,879
Nova Scotia Duck Tolling Retriever 11.1% 63
Miniature American Shepherd 9.8% 1,474
Chesapeake Bay Retriever 9.6% 136
English Cocker Spaniel 9.5% 579
Finnish Lapphund 8.8% 57
Spanish Water Dog 8.3% 96
Poodle Miniature 8.2% 3,547
Portuguese Water Dog 7.8% 663
Labrador Retriever 7.2% 16,825
Yorkshire Terrier 6.8% 8,343
Coton De Tulear 5.3% 104
Barbet 4.7% 106
Chinese Crested 2.9% 204
Golden Retriever 2.7% 12,860
Dalmatian 2.4% 816
Poodle Toy 2.1% 94
Tibetan Terrier 2.1% 95
Pomeranian 2.1% 5,285
Biewer Terrier 2.0% 184
Bichon Frise 2.0% 1,066

Top 25 of 65 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 14 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed Estimate n tested
Kuvasz 14.3% 7
Kai Ken 11.1% 9
Lapponian Herder 9.6% 26
Lancashire Heeler 8.8% 17
Nordic Spitz 8.3% 6
Field Spaniel 6.9% 29
Russian Tsvetnaya Bolonka 6.7% 15
Rat Terrier 6.3% 8
Entlebucher Mountain Dog 4.5% 11
Manchester Terrier Toy 4.2% 12
Puli 4.2% 12
Plott 4.0% 25
Portuguese Podengo Pequenos 2.9% 17
Black Russian Terrier 2.2% 23

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

Scope of this record

Scope

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. Carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

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:

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

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001298-9615 · Donner et al. 2023