{"topic_id":"companion_breed_health_spanish_water_dog_omia4391_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_spanish_water_dog_omia4391_dog\ncategory: companion-breed-health\ntitle: \"Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (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/spanish_water_dog_omia4391_4391.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 107\nverification:\n  method: substring_match\n  claims: 5\n  passed: 5\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_spanish_water_dog_omia4391_dog/01_companion_breed_health_spanish_water_dog_omia4391_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: \"Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA002282/9615/\"\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# Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (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: Spanish Water Dog (Dog)`\n- `Disorder: `\n- `Mode of inheritance: Autosomal recessive`\n- `Clin feat: Winkler et al. (2020): Fundus images from an affected ~4.5-year-old dog (SWD IIE) showed advanced retinal degeneration typical of PRA, including vascular attenuation and tapetal hyperreflectivity`\n- `Defect: yes`\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: Winkler et al. (2020): \"A 6-bp deletion was identified in exon 19 of PDE6B removing two highly conserved amino acids from the enzymatic domain of the PDE6B protein (c.22182223del; p.Phe740_Phe741del). This segregated with the disease status in the small study pedigree.\"\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- 2020. A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy. Vet Ophthalmol — PubMed:PMID32639685 | DOI:10.1111/vop.12792 — OMIA Phene_Article / Article\n- 2022. Quantitative and qualitative characterization of retinal dystrophies in canine models of inherited retinal diseases using spectral domain optical coherence tomography (SD-OCT). Exp Eye Res — PubMed:PMID35588783 | DOI:10.1016/j.exer.2022.109106 — 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. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article\n- 2025. Novel photoreceptor-specific promoters for gene therapy in mid-to-late stage retinal degeneration. Mol Ther — PubMed:PMID40405464 | DOI:10.1016/j.ymthe.2025.05.020 — OMIA Phene_Article / Article\n- 2025. Gene therapy advances using canine and feline animal models of inherited retinal degeneration. Eye (Lond) — PubMed:PMID40461693 | DOI:10.1038/s41433-025-03825-y — OMIA Phene_Article / Article\n- 2026. Crosstalk between r-loops, RNA/DNA modifications, and cell death dynamics in canine models of retinitis pigmentosa. Invest Ophthalmol Vis Sci — PubMed:PMID41649227 | DOI:10.1167/iovs.67.2.20 — 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 — Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/32639685/","retrieved":"2026-08-22","ref":"PMID 32639685","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":500,"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."}