--- license: permission_granted topic_id: companion_species_health_x_linked_progressive_retinal_atrophy_dog category: companion-species-health title: "Dog (Canis lupus familiaris) — X-linked progressive retinal atrophy (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/dog_x_linked_progressive_retinal_atrophy_6827.txt date_parsed: 2026-08-24 tokens_estimated: 91 verification: method: substring_match claims: 3 passed: 3 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_x_linked_progressive_retinal_atrophy_dog/01_companion_species_health_x_linked_progressive_retinal_atrophy_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: "Dog (Canis lupus familiaris) — X-linked progressive retinal atrophy (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA003046/9615/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false
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."---
Dog (Canis lupus familiaris) — X-linked progressive retinal atrophy (hereditary; OMIA-verified species predisposition)
Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Species: Dog (Canis lupus familiaris)Disorder: X-linked progressive retinal atrophyClin feat: Bionda et al. (2026) report related male English Cocker Spaniel dogs with a progressive vision deficit. Retinal pathology was recorded around 3-4 years of age with a possible earlier onset of visual impairment.
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 398299092 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Bionda et al. (2026) identified a 1-bp deletion in exon 36 of the <em>CACNA1F</em> gene (NC_049260.1:g.42,516,353del; XM_038587436.1:c.4,481del, XP_038443364.1:p.Phe1482LeufsTer8; omia.variant:1881) as likely causal variant for a novel form of X-linked progressive retinal atrophy in related English Cocker Spaniel dogs.
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.
- 2026. Deletion in CACNA1F gene causes X-linked progressive retinal atrophy in English Cocker Spaniel dogs. BMC Vet Res — PubMed:PMID41882631 | DOI:10.1186/s12917-026-05421-y — 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:300110 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300476 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300071 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300600 (type: trait) — OMIA Group_OMIM (via OMIA_ID)