{"topic_id":"companion_breed_health_american_pit_bull_terrier_omia3313_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_american_pit_bull_terrier_omia3313_dog\ncategory: companion-breed-health\ntitle: \"American Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (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_pit_bull_terrier_omia3313_3313.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 371\nverification:\n  method: substring_match\n  claims: 7\n  passed: 7\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_american_pit_bull_terrier_omia3313_dog/01_companion_breed_health_american_pit_bull_terrier_omia3313_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 Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001675/9615/\"\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 Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (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 Pit Bull 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 American Staffordshire Terriers, but these authors showed that the two disorders are not allelic, and consequently named the other disorder crd1 (see OMIA 001674-9615)`\n- `Defect: yes`\n- `Pathology: As reported by Goldstein et al. (2013): By 12 weeks of age, . . . the ONL [outer nuclear layer] of the crd2-affected retina comprised only 5-7 layers; cone and rod inner and outer segments were present but distinctly abnormal, disorganized, and reduced in size and number compared to age-matched normal retina . . . . At 20 months of age, no IS [inner segments] and OS [outer segments] were present in the crd2-affected retina, and the ONL was thinned to nowhere more than 2 cell layers`\n- `Control: Aguirre et al. (2021): show that adeno-associated virus (AAV)-mediated NPHP5 [IQCB1] gene augmentation of mutant canine retinas at the time of active degeneration and peak cell death stably restores photoreceptor structure, function, and vision with either the canine or human NPHP5 [IQCB1] transgenes.`\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: Entrez Gene ID 388246541 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Sequencing of a likely candidate gene (IQCB1, also called NPHP5) in the candidate block (see Mapping section) enabled Goldstein et al. (2013) to identify the causal mutation to be \"3 cytosines compared to 2 in the wild-type allele (CFA33: 28,120,686-28,120,687 . . . . This insertion, c.952-953insC, causes a frameshift that results in a change of 12 amino acids (amino acids 319-330) and introductio…\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. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. Hum Mol Genet — PubMed:PMID27506978 | DOI:10.1093/hmg/ddw254 — OMIA Phene_Article / Article\n- 2021. Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis. Mol Ther — PubMed:PMID33781914 | DOI:10.1016/j.ymthe.2021.03.021 — OMIA Phene_Article / Article\n- 2022. Altered transsulfuration pathway enzymes and redox homeostasis in inherited retinal degenerative diseases. Exp Eye Res — PubMed:PMID34954206 | DOI:10.1016/j.exer.2021.108902 — 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. Cone-driven, geniculo-cortical responses in canine models of outer retinal disease. bioRxiv — PubMed:PMID38168165 | DOI:10.1101/2023.12.13.571523 — OMIA Phene_Article / Article\n- 2024. Cone-driven, geniculocortical responses in canine models of outer retinal disease. Transl Vis Sci Technol — PubMed:PMID38241039 | DOI:10.1167/tvst.13.1.18 — OMIA Phene_Article / Article\n- 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\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- (1 additional references in OMIA)\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:609237 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:609254 (type: trait) — 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 Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"American Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (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":775,"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."}