How is Primary Lens Luxation (PLL) inherited in dogs?

Primary Lens Luxation (PLL) follows a Autosomal recessive inheritance pattern. It has been observed in 38 of 266 breeds screened in the Sniff Atlas.

What is the human equivalent of Primary Lens Luxation (PLL)?

OMIA links Primary Lens Luxation (PLL) to its human counterpart in OMIM (OMIM 613195), the bridge to the deeper human-medicine literature for the same underlying biology.

How well studied is Primary Lens Luxation (PLL) in dogs?

OMIA curates 37 peer-reviewed references for Primary Lens Luxation (PLL). The full, linked citation list is on this page.

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
Variant pathogenicity: Pathogenic
Source dataset: Sniff Atlas v1.0.1 / DOI

The Pathogenic grade describes the documented variant's causality, per the Animal Variant Classification Guidelines (AVCG; Boeykens et al. 2024, Front Vet Sci), an ACMG/AMP-style framework curated in OMIA. It grades the variant, not any individual dog. See the full classification table.

The human connection

A model of human Weill-Marchesani 4 syndrome, recessive

This is the canine counterpart of Weill-Marchesani 4 syndrome, recessive in people. That makes affected dogs a naturally-occurring model of the human disease, and it is part of why studying dogs moves medicine forward for everyone. It does not mean your dog has the human disease. It means the two share an underlying biology.

In humans it is also called: WMS4, 15q26.3 microdeletion syndrome, Weill-Marchesani syndrome 4, Weill-Marchesani-like syndrome.

MONDO:0013176 OMIM 613195

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Sniff renders this as a model-of link; the canine disease remains the subject of this page.

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

see also OMIA 001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris

Clinical features

The clinical features associated with primary lens luxation (PLL) are changes to eye lens stability in both eyes, with varying severity of clinical signs associated with each eye. PLL typically goes undetected until the lens displaces in one eye. Dogs typically present with concurrent partial lens displacement of the other eye, which progresses into full displacement weeks to months later (Farias et al., 2010; Colitz & O’Connell, 2015). The lens usually moves anteriorly causing disruption to the pupil and draining mechanism in the eye, leading to acute glaucoma (Gould et al., 2011; Gharahkhani et al., 2015). IT thanks DVM student Zoe Levesque, who provided the basis of this contribution in May 2023.

Molecular genetics

By sequencing the positional candidate gene ADAMTS17, Farias et al. (2010) identified the causal mutation as "a G→A transition at c.1473+1, which destroys the splice donor recognition site in intron 10". Gould et al. (2011) "screened 121 dogs of 30 different breeds that were clinically affected with PLL for the previously described ADAMTS17 mutation [OMIA variant:365]. ... In addition to the three previously reported breeds we identified at least one dog of each of 14 different breeds that was homozygous for the ADAMTS17 mutation and clinically affected (Australian Cattle dog, Chinese crested dog, Jagdterrier [also known as the German hunt terrier], Parson Russell terrier, Patterdale terrier, Rat terrier, Sealyham terrier, Tenterfield terrier, Tibetan terrier, Toy fox terrier, Volpino Italiano, Welsh terrier, Wire-haired fox terrier, Yorkshire terrier). Oliver et al. (2018): "All affected [Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both] Shar-Pei were homozygous for a 6-bp deletion in exon 22 of ADAMTS17 predicted to affect the resultant protein. All unaffected Shar-Pei were heterozygous or homozygous for the wild-type allele. The variant sequence was significantly associated with affected status (diagnosis of POAG, PLL, or both). All dogs of other breeds were homozygous for the wild-type allele. The cDNA sequencing confirmed presence of the expected variant mRNA sequence in ocular tissue from the affected dog only. Gene expression analysis revealed a 4.24-fold decrease in the expression of ADAMTS17 in ocular tissue from the affected dog."

Prevalence

Tzouganakis et al. (2022) genotyped 82 Portuguese Podengo dogs in the UK genotyping for the ADAMTS17:c.1473+1G>A mutation. The allele frequency for the variant was estimated calculated as 0.09.

Human analog

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

Disease · OMIM 613195 Gene · OMIM 607511

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:000588-9615, 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. Showing 6 of 37.

Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed. · Vet Ophthalmol · 2022 · PMID 34870369
A multicenter retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in Lagotto Romagnolo dog breed within a referral population in Italy (2012-2020). · Vet Ophthalmol · 2022 · PMID 35976615
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
Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. · PLoS One · 2019 · PMID 30650096
Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. · Am J Vet Res · 2018 · PMID 29287154

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 Primary Lens Luxation (PLL) 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 Primary Lens Luxation (PLL) looks like in your dog's breed.

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.

0%10%20%

Chinese Shar Pei15.4% · n 400

15.4%n 400

Tibetan Terrier9.5% · n 95

9.5%n 95

Danish Swedish Farmdog8.2% · n 61

8.2%n 61

Australian Cattle Dog7.5% · n 982

7.5%n 982

Chinese Crested6.6% · n 204

6.6%n 204

Parson Russell Terrier6.1% · n 181

6.1%n 181

Pumi5.2% · n 86

5.2%n 86

Scottish Terrier1.1% · n 237

1.1%n 237

Chihuahua0.43% · n 4,273

0.43%n 4,273

Russell Terrier0.42% · n 239

0.42%n 239

Yorkshire Terrier0.36% · n 8,367

0.36%n 8,367

Catahoula Leopard Dog0.32% · n 154

0.32%n 154

Bull Terrier Standard0.32% · n 468

0.32%n 468

Schnauzer Miniature0.14% · n 4,638

0.14%n 4,638

Dachshund Miniature Shorthaired<0.1% · n 585

<0.1%n 585

n = 20,970 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 Primary Lens Luxation (PLL) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Chinese Shar Pei	15.4%	[12.2%, 19.3%]	400
Tibetan Terrier	9.5%	[5.1%, 17.0%]	95
Danish Swedish Farmdog	8.2%	[3.6%, 17.8%]	61
Australian Cattle Dog	7.5%	[6.0%, 9.4%]	982
Chinese Crested	6.6%	[3.9%, 10.9%]	204
Parson Russell Terrier	6.1%	[3.4%, 10.6%]	181
Pumi	5.2%	[2.2%, 12.1%]	86
Scottish Terrier	1.1%	[0.3%, 3.3%]	237
Chihuahua	0.43%	[0.3%, 0.7%]	4,273
Russell Terrier	0.42%	[0.1%, 2.3%]	239
Yorkshire Terrier	0.36%	[0.3%, 0.5%]	8,367
Catahoula Leopard Dog	0.32%	[0.0%, 3.0%]	154
Bull Terrier Standard	0.32%	[0.1%, 1.4%]	468
Schnauzer Miniature	0.14%	[0.1%, 0.3%]	4,638
Dachshund Miniature Shorthaired	<0.1%	[0.0%, 0.8%]	585
Miniature Pinscher	<0.1%	[0.0%, 0.7%]	658
Beagle	<0.1%	[0.0%, 0.2%]	5,292
Basset Hound	<0.1%	[0.0%, 0.5%]	990
American Staffordshire Terrier	<0.1%	[0.0%, 0.1%]	42,793
Miniature American Shepherd	<0.1%	[0.0%, 0.3%]	1,476
Pug	<0.1%	[0.0%, 0.1%]	5,154
Pomeranian	<0.1%	[0.0%, 0.1%]	5,294
Great Pyrenees	<0.1%	[0.0%, 0.2%]	1,985
Cavalier King Charles Spaniel	<0.1%	[0.0%, 0.2%]	2,243
Maltese	<0.1%	[0.0%, 0.2%]	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	Wilson 95% CI	n tested
Volpino Italiano	23.5%	[9.6%, 47.3%]	17
Coyote	16.7%	[3.9%, 49.3%]	9
Welsh Terrier	14.3%	[5.0%, 34.6%]	21
German Hunting Terrier	11.5%	[2.7%, 37.9%]	13
Fox Terrier Toy	8.3%	[3.3%, 19.6%]	48
Mcnab	7.1%	[2.0%, 22.6%]	28
Lancashire Heeler	5.9%	[1.0%, 27.0%]	17

228 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:000588-9615.
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:000588-9615, 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:000588-9615 · Donner et al. 2023