American Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_american_bulldog_canine_multifocal_retinopathy_dog category: companion-breed-health title: "American Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/american_bulldog_canine_multifocal_retinopathy_2845.txt date_parsed: 2026-08-02 tokens_estimated: 424 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_bulldog_canine_multifocal_retinopathy_dog/01_companion_breed_health_american_bulldog_canine_multifocal_retinopathy_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "American Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001444/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

American Bulldog — Canine multifocal retinopathy (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: American Bulldog (Dog)
• Disorder: Canine multifocal retinopathy
• Mode of inheritance: Autosomal recessive
• 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 [a href=../../../../../../OMIA001553/9615/OMIA:001553-9615/a], cmr3 [a href=../../../../../../OMIA001554/9615/OMIA:001554-9615/a]), all of which are very similar clinically. The form of cmr detailed in this entry (cmr1) occurs in several breeds (listed below).
• Clin feat: 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).
• Defect: yes
• 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.
• Gen test: There are tests available to detect the known causative mutations.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: VMD2 (Entrez Gene ID 26588296) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: 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&gt;T; p.Arg25Ter (Guziewicz et al., 2007). Gornik et al. (2014) reported this same causal mutation in a Boerboel.

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2007. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci — PubMed:PMID17460247 | DOI:10.1167/iovs.06-1374 — OMIA Phene_Article / Article
• 1998. Multifocal retinopathy of Great Pyrenees dogs. Vet Ophthalmol — PubMed:PMID11397233 — OMIA Phene_Article / Article
• 2010. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis — PubMed:PMID21197113 — OMIA Phene_Article / Article
• 2011. Molecular Consequences of BEST1 Gene Mutations in Canine Multifocal Retinopathy Predict Functional Implications for Human Bestrophinopathies. Invest Ophthalmol Vis Sci — PubMed:PMID21498618 | DOI:10.1167/iovs.10-6385 — OMIA Phene_Article / Article
• 2012. Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies. Mamm Genome — PubMed:PMID22065099 | DOI:10.1007/s00335-011-9361-3 — OMIA Phene_Article / Article
• 2012. Modeling the Structural Consequences of BEST1 Missense Mutations. Adv Exp Med Biol — PubMed:PMID22183385 | DOI:10.1007/978-1-4614-0631-0_78 — OMIA Phene_Article / Article
• 2012. Canine multifocal retinopathy in the Australian Shepherd: a case report. Vet Ophthalmol — PubMed:PMID22432598 | DOI:10.1111/j.1463-5224.2012.01005.x — OMIA Phene_Article / Article
• 2013. Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects. PLoS One — PubMed:PMID24143172 | DOI:10.1371/journal.pone.0075666 — OMIA Phene_Article / Article
• 2014. Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel. Vet Ophthalmol — PubMed:PMID23998685 | DOI:10.1111/vop.12095 — OMIA Phene_Article / Article
• 2016. Genetic panel screening of nearly 100 mutations reveals new insights into the breed distribution of risk variants for canine hereditary disorders. PLoS One — PubMed:PMID27525650 | DOI:10.1371/journal.pone.0161005 — OMIA Phene_Article / Article
• 2014. Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations. PLoS One — PubMed:PMID24599007 | DOI:10.1371/journal.pone.0090390 — OMIA Phene_Article / Article
• 2023. The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS One — PubMed:PMID36848350 | DOI:10.1371/journal.pone.0281215 — OMIA Phene_Article / Article
• (10 additional references in OMIA)

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:153700 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:611809 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:193220 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613194 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:607854 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."