--- license: permission_granted topic_id: companion_breed_health_labrador_retriever_omia2996_dog category: companion-breed-health title: "Labrador Retriever — Oculoskeletal dysplasia 1 (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/labrador_retriever_omia2996_2996.txt date_parsed: 2026-08-02 tokens_estimated: 604 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_labrador_retriever_omia2996_dog/01_companion_breed_health_labrador_retriever_omia2996_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: "Labrador Retriever — Oculoskeletal dysplasia 1 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001522/9615/" 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
Labrador Retriever — Oculoskeletal dysplasia 1 (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: Labrador Retriever (Dog)Disorder:Mode of inheritance: Autosomal recessiveSummary: Oculoskeletal dysplasia 1 (osd1, drd1) is a collagen disorder characterized by short-limbed dwarfism, particularly of the forelimbs, and vitreous dysplasia with associated retinal detachment and cataracts.nbsp;brSee also a href=../../../../../../OMIA001523/9615/OMIA:001523-9615/a : Oculoskeletal dysplasia 2Clin feat: Signs may be noticeable as early as 4 to 6 weeks of age (Carrig et al., 1997; Goldstein et al., 2010). Affected dogs have short-limbed dwarfism and vitreous dysplasia. Associated ophthalmic lesions include retinal detachment and cataracts. The forelimbs are most noticeably affected, particularly the short radius and ulna, which subsequently develop curvature with varus/valgus deformities (Carrig et al., 1997). In pups, the dome of the cranium is often pronounced and there is moderate excessive exotropic strabismus. Some, but not all, carriers have vitreal stands, focal retinal folds or plaques of retinal dysplasia.Defect: yesPathology: There is a range of ocular defects, but the most consistent findings are cortical equatorial cataracts and vitreal liquefaction (Goldstein et al, 2010). Histologic lesions in the growth plates included disorganization of cellular columns with abnormal extent of calcification, great variability in chrondrocyte shape, and premature cellular condensation in the maturation zone (Farnum et al., 1992).Prevalence: The frequency of the likely causal variant in the overall Labrador retriever population is estimated at 4% (Goldstein et al., 2010). Stavinohova et al. (2019): the c.700Cgt;T variant was genotyped in a total of 1,232 dogs. All seven affected NID [Northern Inuit Dogs] were homozygous for the variant allele (T/T), while 31/116 OSD-unaffected NID were heterozygous for the variant (C/T) and 85/116 were homozygous for the wildtype allele (C/C) . . . A subset of 56 NID unrelated at the parent level were analysed to determine an allele frequency of 0.08, estimating carrier and affected rates to be 15% and 0.6% respectively in NID. All 1,109 non-NID were C/C, suggesting the variant is rare or absent in other breeds.Control: Parents and siblings of affected dogs should be DNA tested.nbsp;
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: Entrez Gene ID 26648406 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: The likely causal variant in Labradors is an insertion of a guanine residue in exon 1 in the COL3 domain of COL9A3, causing an amino acid codon frameshift and a premature stop codon. Reduced RNA expression is found in affected retinas (Goldstein et al., 2010). It is currently thought that the causative mutation leads to collagen absence or deficiency in cartilage and ocular collagen, with a larger…
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.
- 1977. Retinal dysplasia associated with skeletal abnormalities in Labrador Retrievers. J Am Vet Med Assoc — PubMed:PMID830631 — OMIA Phene_Article / Article
- 1992. Ocular-Chondrodysplasia in Labrador Retriever Dogs - A Morphometric and Electron Microscopical Analysis. Calcified Tissue International — PubMed:PMID1525714 — OMIA Phene_Article / Article
- 1988. Inheritance of associated ocular and skeletal dysplasia in Labrador retrievers. J Am Vet Med Assoc — PubMed:PMID3204050 — OMIA Phene_Article / Article
- 2010. COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia. Mamm Genome — PubMed:PMID20686772 | DOI:10.1007/s00335-010-9276-4 — OMIA Phene_Article / Article
- 2000. Cloning and expression of type II collagen mRNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11024291 | DOI:10.1016/s0378-1119(00)00324-3 — OMIA Phene_Article / Article
- 2002. Cloning and characterization of opticin cDNA: evaluation as a candidate for canine oculo-skeletal dysplasia. Gene — PubMed:PMID11814684 | DOI:10.1016/s0378-1119(01)00842-3 — 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
- 1995. Oculoskeletal dysplasias in Samoyed and Labrador retriever dogs: nonallelic disorders akin to Stickler-like syndromes affecting humans. 2nd international DOGMAP meeting, Cambridge — OMIA Phene_Article / Article
- 2019. Clinical, histopathological and genetic characterisation of oculoskeletal dysplasia in the Northern Inuit Dog. PLoS One — PubMed:PMID31415586 | DOI:10.1371/journal.pone.0220761 — OMIA Phene_Article / Article
- 2020. Oculo-skeletal dysplasia in five Labrador Retrievers. Vet Ophthalmol — PubMed:PMID31595625 | DOI:10.1111/vop.12715 — OMIA Phene_Article / Article
- 2020. Focal/multifocal and geographic retinal dysplasia in the dog-In vivo retinal microanatomy analyses. Vet Ophthalmol — PubMed:PMID31746146 | DOI:10.1111/vop.12725 — OMIA Phene_Article / Article
- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
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:154780 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:120270 (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."