American Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_american_pit_bull_terrier_omia3313_dog category: companion-breed-health title: "American Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (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_pit_bull_terrier_omia3313_3313.txt date_parsed: 2026-08-02 tokens_estimated: 371 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_pit_bull_terrier_omia3313_dog/01_companion_breed_health_american_pit_bull_terrier_omia3313_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 Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001675/9615/" 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 Pit Bull Terrier — Retinal atrophy - Cone-rod dystrophy 2 (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 Pit Bull Terrier (Dog)
• Disorder:
• Mode of inheritance: Autosomal recessive
• 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)
• Defect: yes
• 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
• 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.

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 388246541 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• 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…

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.

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 2024. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
• (1 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:609237 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609254 (type: trait) — 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."