What is the human equivalent of Primary Open Angle Glaucoma (Discovered in the Beagle; POAG)?

OMIA links Primary Open Angle Glaucoma (Discovered in the Beagle; POAG) to its human counterpart in OMIM (OMIM 277600), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Primary Open Angle Glaucoma (Discovered in the Beagle; POAG)

Q: How well studied is Primary Open Angle Glaucoma (Discovered in the Beagle; POAG) in dogs?

OMIA curates 30 peer-reviewed references for Primary Open Angle Glaucoma (Discovered in the Beagle; POAG). The full, linked citation list is on this page.

Primary Open Angle Glaucoma (Discovered in the Beagle; POAG). Autosomal recessive. Observed in 3 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,229 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:001870-9615
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 syndrome 1

This is the canine counterpart of Weill-Marchesani syndrome 1 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 people, the disease is described as: Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.

In humans it is also called: WMS1, ADAMTS10 Weill-Marchesani syndrome, Weill-Marchesani syndrome 1, recessive, Weill-Marchesani syndrome type 1.

MONDO:0010194 OMIM 277600

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.

Molecular genetics

By sequencing one affected, one carrier and one normal dog from the POAG Beagle colony, for the entire 4MB candidate region described in the Mapping section above, Kuchtey et al. (2011) identified the causal mutation as a "56097365 G->A variant [Gly661Arg] . . . within exon 17 of ADAMTS10, a member of the disintegrin and metalloproteinase with thrombospondin motifs family of secreted proteases involved in formation of the extracellular matrix". The authors noted that "glycine at position 661 is completely conserved in 38 vertebrate species". By genotyping Beagle dogs not belonging to the POAG Beagle colony, Kuchtey et al. (2013) provided strong supportive evidence for the 56097365 G->A variant [Gly661Arg] being a causal mutant of POAG in this breed. Kanemaki et al. (2013) provided evidence that variants in ADAMTS10 are not causal for this disorder in Shiba-Inus and Shih-Tzus, but that variants in SRBD1 (another comparative candidate gene) "play an important role in glaucoma pathology in both Shiba-Inus and Shih-Tzus". Ahonen et al. (2014) reported a different likely causal mutation in Norwegian Elkhound: "A fully segregating missense mutation (p.A387T) in exon 9 was found in 14 cases and 572 unaffected NEs (pFisher = 3.5×10-27) with a high carrier frequency (25.3%). The mutation interrupts a highly conserved residue in the metalloprotease domain of ADAMTS10, likely affecting its functional capacity".

Inheritance

From a colony of Beagles with POAG, established in 1972 (Gelatt, 1972; Gelatt et al., 1977), Gelatt and Gum (1981) provided substantial evidence of autosomal recessive inheritance.

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 277600 Gene · OMIM 608990

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001870-9615, 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 30.

Pro-inflammatory cytokines in aqueous humor from ADAMTS10-mutant Beagles at an early stage of open-angle glaucoma. · Vet Ophthalmol · 2025 · PMID 39949047
Assessment of early glaucomatous optic neuropathy in the dog by spectral domain optical coherence tomography (SD-OCT). · Micromachines (Basel) · 2024 · PMID 38930749
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. · Genome Biol · 2023 · PMID 37582787
Ocular pulse amplitude (OPA) in canine ADAMTS10-open-angle glaucoma (ADAMTS10-OAG). · Front Bioeng Biotechnol · 2023 · PMID 38130820
Iris angiography in ADAMTS10 mutant dogs with open-angle glaucoma (ADAMTS10-OAG). · Vet Ophthalmol · 2023 · PMID 36855027
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

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 Open Angle Glaucoma (Discovered in the Beagle; POAG) 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 Open Angle Glaucoma (Discovered in the Beagle; POAG) looks like in your dog's breed.

Carrier frequency by breed

Top 2 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%

Beagle0.68% · n 4,993

0.68%n 4,993

Miniature Pinscher<0.1% · n 658

<0.1%n 658

n = 5,651 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 Open Angle Glaucoma (Discovered in the Beagle; POAG) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Beagle	0.68%	[0.5%, 1.0%]	4,993
Miniature Pinscher	<0.1%	[0.0%, 0.7%]	658

▸ Also observed in 1 small-sample breed (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
Laika	8.3%	[1.9%, 29.4%]	18

263 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:001870-9615.
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:001870-9615, 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:001870-9615 · Donner et al. 2023