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Finnish Lapphund — Multifocal retinopathy 3 (hereditary; OMIA-verified breed predisposition)

companion_breed_health_finnish_lapphund_omia3066_dog

companion-breed-health 787 tok en 2026-08-22

--- license: permission_granted topic_id: companion_breed_health_finnish_lapphund_omia3066_dog category: companion-breed-health title: "Finnish Lapphund — Multifocal retinopathy 3 (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/finnish_lapphund_omia3066_3066.txt date_parsed: 2026-08-02 tokens_estimated: 395 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_finnish_lapphund_omia3066_dog/01_companion_breed_health_finnish_lapphund_omia3066_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: "Finnish Lapphund — Multifocal retinopathy 3 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001554/9615/" 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

Finnish Lapphund — Multifocal retinopathy 3 (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: Finnish Lapphund (Dog)
  • Disorder:
  • Mode of inheritance: Autosomal recessive
  • Summary: Canine multifocal retinopathy (cmr) is an ocular disorder characterized by multiple areas of retinal degeneration. The disorder detailed in this entry (cmr3) has essentially the same cinical signs as the other two forms of cmr (namely cmr1 [a href=../../../../../../OMIA001444/9615/OMIA:001444-9615/a] and cmr2 [a href=../../../../../../OMIA001553/9615/OMIA:001553-9615/a]), but as explained by Zangerl et al. (2010), the nature of the cmr3 mutation suggests a different molecular mechanism.
  • Clin feat: Signs of cmr 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, progressing as the dog 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 mutations for Cmr3 in the Lapponian herder are a deletion and a G to T substitution in exon 10 of BEST1 (Zangerl et al., 2010).

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
  • 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
  • 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
  • 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
  • 2021. 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 — OMIA Phene_Article / Article
  • 2024. Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT. Vision Res — PubMed:PMID38460402 | DOI:10.1016/j.visres.2024.108379 — OMIA Phene_Article / Article
  • 2024. Corrigendum to "Retinal response to light exposure in BEST1-mutant dogs evaluated with ultra-high resolution OCT" [Vis. Res. 218 (2024) 108379]. Vision Res — PubMed:PMID38825532 | DOI:10.1016/j.visres.2024.108437 — OMIA Phene_Article / Article
  • 2024. Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39739008 | DOI:10.1007/s00335-024-10091-y — OMIA Phene_Article / Article
  • (5 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."

Sources

Finnish Lapphund — Multifocal retinopathy 3 (hereditary; OMIA-verified breed predisposition)
companion-breed-healthPMID 17460247retrieved 2026-08-22

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