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Canine Mendelian disease record

Collie Eye Anomaly (CEA)

Collie Eye Anomaly (CEA). Autosomal recessive. Observed in 44 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,663 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:000218-9615
Inheritance
Autosomal recessive
Linked gene
CEA
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
Collie 72.2% 1,207
Boykin Spaniel 22.4% 154
Shetland Sheepdog 12.5% 945
Border Collie 11.1% 6,714
Nova Scotia Duck Tolling Retriever 7.1% 63
Australian Shepherd 5.0% 2,296
Anatolian Shepherd Dog 3.8% 66
Australian Kelpie 3.4% 104
Miniature American Shepherd 2.0% 1,476
Australian Cattle Dog 2.0% 982
Parson Russell Terrier 2.0% 181
Chow Chow 2.0% 643
Great Pyrenees 2.0% 1,985
German Shepherd 2.0% 15,648
Saint Bernard 2.0% 721
Treeing Walker Coonhound 2.0% 336
Whippet 2.0% 177
Dobermann Pinscher 2.0% 2,219
Schnauzer Giant 2.0% 230
American Staffordshire Terrier 2.0% 42,793
Siberian Husky 2.0% 9,034
Old English Sheepdog 2.0% 423
Labrador Retriever 2.0% 16,856
American Foxhound 2.0% 574
Chihuahua 2.0% 4,273

Top 25 of 36 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 8 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
Bulgarian Shepherd 50.0% 1
Hokkaido Inu 50.0% 4
Mcnab 17.9% 28
Lancashire Heeler 11.8% 17
Lacy Dog 9.4% 32
Bearded Collie 8.3% 12
Maremma Sheepdog 2.7% 37
Lapponian Herder 2.0% 26

222 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:000218-9615 · Donner et al. 2023