{"topic_id":"companion_breed_health_american_staffordshire_terrier_omia3312_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_american_staffordshire_terrier_omia3312_dog\ncategory: companion-breed-health\ntitle: \"American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/american_staffordshire_terrier_omia3312_3312.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 346\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_american_staffordshire_terrier_omia3312_dog/01_companion_breed_health_american_staffordshire_terrier_omia3312_dog.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001674/9615/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: American Staffordshire Terrier (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: As reported by Kijas et al. (2004): early, severe, and rapidly progressive loss of cone function accompanied by progressive rod loss that is only relatively slower. Very similar clinical signs were reported by Kijas et al. (2004) in a family of Pit Bull Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd2 (see OMIA 001675-9615)`\n- `Defect: yes`\n- `Pathology: As reported by Goldstein et al. (2013): At 11 weeks postnatal age, the earliest time-point examined, the outer nuclear layer (ONL) of the crd1-affected retina was reduced to between 6 to 8 nuclei in thickness . . . . Photoreceptor IS [inner segments] and OS [outer segments] were distinctly distorted, with rod IS more severely affected than those of cones. Relatively few OS of either rods or cones were recognizable, and the profiles that comprised the putative ISL and OSL (i.e. the layer between the outer limiting membrane and the retinal pigment epithelium) were sparse and disarrayed (Figure 2C). By 20 months of age, the crd1-affected retina was in an advanced state of degeneration, with less than 2-3 ONL cells`\n## Associated gene(s)\nDerived 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.\n- Gene: PDBS (Entrez Gene ID 399653) — OMIA Phene_Gene / GeneSynonym\n- OMIA molecular-genetics note: Sequencing of a likely candidate gene (PDE6B) in the candidate block (see Mapping section) enabled Goldstein et al. (2013) to identify the causal mutation to be \"a three-bases-deletion . . . in exon 21 of the gene in the affected dogs (c.2404-2406del, CFA3: 94,574,289-94,574,291), in-frame with the protein . . . . This mutation would result in a deletion of the amino acid asparagine at position 80…\n\n## Evidence (references)\nDerived 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.\n- 2004. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis — PubMed:PMID15064680 — OMIA Phene_Article / Article\n- 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\n- 2013. IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds. Invest Ophthalmol Vis Sci — PubMed:PMID24045995 | DOI:10.1167/iovs.13-12915 — OMIA Phene_Article / Article\n- 2016. The genetics of inherited retinal disorders in dogs: implications for diagnosis and management. Vet Med (Auckl) — PubMed:PMID30050836 | DOI:10.2147/VMRR.S63537 — OMIA Phene_Article / Article\n- 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\n- 2023. Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs. Vet Rec Open — PubMed:PMID38028226 | DOI:10.1002/vro2.77 — OMIA Phene_Article / Article\n- 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:163500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:613801 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:180072 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"American Staffordshire Terrier — Retinal atrophy - Cone-rod dystrophy 1 (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/15064680/","retrieved":"2026-08-22","ref":"PMID 15064680","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":761,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}