--- license: permission_granted topic_id: companion_breed_health_spanish_water_dog_omia4391_dog category: companion-breed-health title: "Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (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/spanish_water_dog_omia4391_4391.txt date_parsed: 2026-08-02 tokens_estimated: 107 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_spanish_water_dog_omia4391_dog/01_companion_breed_health_spanish_water_dog_omia4391_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: "Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002282/9615/" 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
Spanish Water Dog — Retinal atrophy, progressive, PDE6B-related (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: Spanish Water Dog (Dog)Disorder:Mode of inheritance: Autosomal recessiveClin 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 hyperreflectivityDefect: yes
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: PDBS (Entrez Gene ID 399653) — OMIA Phene_Gene / GeneSynonym
- 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."
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.
- 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
- 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
- 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. Consensus guidelines for nomenclature of companion animal inherited retinal disorders. Vet Ophthalmol — PubMed:PMID38334230 | DOI:10.1111/vop.13185 — OMIA Phene_Article / Article
- 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
- 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
- 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
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:163500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:613801 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:180072 (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."