What is the human equivalent of Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1)?

OMIA links Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1) to its human counterpart in OMIM (OMIM 153700, OMIM 193220, OMIM 611809, OMIM 613194), the bridge to the deeper human-medicine literature for the same underlying biology.

Canine Mendelian disease record

Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1)

Q: How well studied is Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1) in dogs?

OMIA curates 21 peer-reviewed references for Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1), including the landmark study "Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders.". The full, linked citation list is on this page.

Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1). Autosomal recessive. Observed in 37 of 266 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 242,662 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:001444-9615
Inheritance: Autosomal recessive
Source dataset: Sniff Atlas v1.0.1 / DOI

The human connection

A model of human autosomal recessive bestrophinopathy

This is the canine counterpart of autosomal recessive bestrophinopathy 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: Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG).

In humans it is also called: ARB, bestrophinopathy, autosomal recessive, retinopathy, Burgess-Black type.

MONDO:0012733 OMIM 153700 OMIM 193220

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. 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

Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The detection of three different mutations in the one gene (BEST1) has led to the naming of three different forms of the disorder (cmr1 [OMIA:001444-9615], cmr2 [OMIA:001553-9615], cmr3 [OMIA:001554-9615]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr1) occurs in several breeds (listed below).

Clinical features

Signs of cmr1 develop around 13 weeks of age, and include multiple tan-pink subretinal patches in both the tapetal and the non-tapetal fundus along with focal areas of tapetal hyper-reflectivity. The lesions elevate the retina. They progress as the animal ages to focal areas of retinal degeneration and retinal pigment epithelial hypertrophy and pigmentation (Grahn et al., 1998).

Molecular genetics

The causative mutation of cmr1 in the Great Pyrenees, the English mastiff and the bullmastiff is a C to T mutation that generates a premature stop codon: c.73C>T; p.Arg25Ter (Guziewicz et al., 2007). Gornik et al. (2014) reported this same causal mutation in a Boerboel.

Pathology

In retinal histology there are multiple areas of retinal pigment epithelial vacuolation, hypertrophy, apparent separation from Bruch’s membrane, and multiple serous retinal detachments (Grahn et al., 1998).

Control

Relatives of affected dogs should be tested. Breeding of affected or carrier animals is not recommended. If carriers must be bred, it should be bred only to a tested, homozygous normal dog.

Genetic testing

There are tests available to detect the known causative mutations.

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 153700 Disease · OMIM 193220 Disease · OMIM 611809 Disease · OMIM 613194 Gene · OMIM 607854

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001444-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

Signs & cross-references

How it presents

Catalogued in the Mondo disease ontology (the cross-species disease identity used by the Monarch Initiative) as BEST1-related recessive retinopathy (MONDO:0700239).

Phenotype terms: Human Phenotype Ontology + Mammalian Phenotype Ontology; disease terms: Mondo (Monarch Initiative). Cross-references curated by OMIA (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 21.

★
Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. · PLoS One · 2016 · PMID 27525650
Why is this an OMIA Landmark paper? It is "the first large scale report of DNA panel screening across purebred dogs to date", involving the genotyping of 6,788 dogs from 233 breeds for 93 disease-implicated variants across 80 single-locus disorders, providing a very informative "snapshot" of the distribution and frequency of these variants. Importantly, the results indicated "15 risk variants in a total of 34 breeds in which their presence was previously undocumented", which will be very helpful in the provision of genetic counselling in those breeds. The detection of some of these latter variants led to "plausible molecular explanations" for disorders in some breeds.
Correction: Canine models of inherited retinal diseases: from neglect to well-recognized translational value. · Mamm Genome · 2025 · PMID 39934341
Canine Best disease as a translational model. · Eye (Lond) · 2025 · PMID 39774293
Gene therapy advances using canine and feline animal models of inherited retinal degeneration. · Eye (Lond) · 2025 · PMID 40461693
Corrigendum to "Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT" [Vis. Res. 218 (2024) 108379]. · Vision Res · 2024 · PMID 38825532
Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT. · Vision Res · 2024 · PMID 38460402

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 Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1) 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 Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1) 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%25%50%

Boerboel29.7% · n 165

29.7%n 165

Mastiff17.9% · n 767

17.9%n 767

Dogue De Bordeaux15.1% · n 199

15.1%n 199

Bulldog Standard13.5% · n 4,816

13.5%n 4,816

Great Pyrenees11.8% · n 1,985

11.8%n 1,985

Presa Canario9.4% · n 64

9.4%n 64

Bullmastiff9.1% · n 209

9.1%n 209

Boston Terrier7.5% · n 3,702

7.5%n 3,702

French Bulldog5.4% · n 13,114

5.4%n 13,114

Cane Corso1.4% · n 145

1.4%n 145

Bulldog American1.2% · n 540

1.2%n 540

Neapolitan Mastiff1.1% · n 90

1.1%n 90

Catahoula Leopard Dog0.65% · n 154

0.65%n 154

American Staffordshire Terrier0.58% · n 42,793

0.58%n 42,793

Cairn Terrier0.55% · n 183

0.55%n 183

n = 68,926 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 Canine Multifocal Retinopathy 1 (Discovered in Mastiff-related breeds; CMR1) is measured; phenotype outcome depends on penetrance and modifiers.

▸ Full table with Wilson 95% confidence intervals

Breed	Carrier frequency	Wilson 95% CI	n tested
Boerboel	29.7%	[23.3%, 37.1%]	165
Mastiff	17.9%	[15.4%, 20.8%]	767
Dogue De Bordeaux	15.1%	[10.8%, 20.7%]	199
Bulldog Standard	13.5%	[12.6%, 14.5%]	4,816
Great Pyrenees	11.8%	[10.5%, 13.3%]	1,985
Presa Canario	9.4%	[4.4%, 19.0%]	64
Bullmastiff	9.1%	[5.9%, 13.8%]	209
Boston Terrier	7.5%	[6.7%, 8.4%]	3,702
French Bulldog	5.4%	[5.0%, 5.8%]	13,114
Cane Corso	1.4%	[0.4%, 4.9%]	145
Bulldog American	1.2%	[0.6%, 2.5%]	540
Neapolitan Mastiff	1.1%	[0.2%, 6.0%]	90
Catahoula Leopard Dog	0.65%	[0.1%, 3.6%]	154
American Staffordshire Terrier	0.58%	[0.5%, 0.7%]	42,793
Cairn Terrier	0.55%	[0.1%, 3.0%]	183
Miniature American Shepherd	0.47%	[0.2%, 1.0%]	1,476
Rhodesian Ridgeback	0.46%	[0.1%, 2.0%]	323
Australian Shepherd	0.37%	[0.2%, 0.7%]	2,296
Yorkshire Terrier	0.32%	[0.2%, 0.5%]	8,367
Pomeranian	0.27%	[0.2%, 0.5%]	5,294
Boxer	0.23%	[0.1%, 0.4%]	4,557
Russell Terrier	0.21%	[0.0%, 2.0%]	239
Bloodhound	0.18%	[0.0%, 1.7%]	280
Samoyed	<0.1%	[0.0%, 0.9%]	550
Poodle Miniature	<0.1%	[0.0%, 0.2%]	3,555

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

▸ 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
Terrier Brazileiro	10.0%	[1.1%, 53.7%]	5

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

Penetrance

From genotype to phenotype

Carrier status is not the same as disease status. Penetrance is the fraction of at-risk dogs that develop the phenotype. The Donner 2023 S4 table tracks this for 1 variant(s) underlying this disease in the cohort.

At-risk dogs evaluated: 1
Phenotype confirmed: 0
Penetrance range: not yet quantifiable

Predicted disease relevance at the per-dog level is UNPROVEN. The carrier frequency is measured; phenotype outcome is governed by 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:001444-9615.
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:001444-9615, 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:001444-9615 · Donner et al. 2023