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Canine Mendelian disease record

Primary Lens Luxation (PLL)

Primary Lens Luxation (PLL). Autosomal recessive. Observed in 38 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,665 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:000588-9615
Inheritance
Autosomal recessive
Linked gene
PLL
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
Chinese Shar Pei 15.4% 400
Tibetan Terrier 9.5% 95
Danish Swedish Farmdog 8.2% 61
Australian Cattle Dog 7.5% 982
Chinese Crested 6.6% 204
Parson Russell Terrier 6.1% 181
Pumi 5.2% 86
Scottish Terrier 2.0% 237
Chihuahua 2.0% 4,273
Russell Terrier 2.0% 239
Yorkshire Terrier 2.0% 8,367
Catahoula Leopard Dog 2.0% 154
Bull Terrier Standard 2.0% 468
Schnauzer Miniature 2.0% 4,638
Dachshund Miniature Shorthaired 2.0% 585
Miniature Pinscher 2.0% 658
Beagle 2.0% 5,292
Basset Hound 2.0% 990
American Staffordshire Terrier 2.0% 42,793
Miniature American Shepherd 2.0% 1,476
Pug 2.0% 5,154
Pomeranian 2.0% 5,294
Great Pyrenees 2.0% 1,985
Cavalier King Charles Spaniel 2.0% 2,243
Maltese 2.0% 2,413

Top 25 of 31 well-sampled breeds with at least one observed carrier shown.

▸ Also observed in 7 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
Volpino Italiano 23.5% 17
Coyote 16.7% 9
Welsh Terrier 14.3% 21
German Hunting Terrier 11.5% 13
Fox Terrier Toy 8.3% 48
Mcnab 7.1% 28
Lancashire Heeler 5.9% 17

228 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:000588-9615 · Donner et al. 2023