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)