--- license: permission_granted topic_id: companion_breed_health_poodle_standard_day_blindness_retinal_degeneration_dog category: companion-breed-health title: "Poodle, Standard — day blindness / retinal degeneration (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/poodle_standard_day_blindness_retinal_degeneration_6728.txt date_parsed: 2026-08-02 tokens_estimated: 228 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_poodle_standard_day_blindness_retinal_degeneration_dog/01_companion_breed_health_poodle_standard_day_blindness_retinal_degeneration_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: "Poodle, Standard — day blindness / retinal degeneration (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA003028/9615/" 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
Poodle, Standard — day blindness / retinal degeneration (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: Poodle, Standard (Dog)Disorder: day blindness / retinal degenerationMode of inheritance: Autosomal recessiveClin feat: Murgiano et al. (2025): Affected dogs had severe vision deficits present at a young age, generally before 2–3 months of age, and characterized by very poor to absent vision under photopic conditions, but with no evidence of photophobia. ... Full-field electroretinography (ERG) was used for objective assessment of retinal function. .... cone ERG responses were absent as early as 7 weeks of age. We also found that as early as 15 weeks of age, rod responses were reduced by ~60–80% in dogs that showed no vascular attenuation or generalized hyperreflectivity ... .nbsp;Over time, rod responses were further decreased and no longer recordable, and the ERG was considered ‘extinguished’.Defect: 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: Entrez Gene ID 398299074 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Murgiano et al. (2025): "Through GWAS and homozygosity mapping, a large deletion on CFA8:NC_049229.1:g.60,022,583_60,040,453del was found which removes 3’ portions of two different genes, <em>PTPN21</em> and <em>SPATA7 ... ." </em>The authors propose that the effect on the functional candidate gene SPATA7 is disease causing:<em> "</em>The variant leads to a deletion of the 3’-end of the SPATA7 tra…
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.
- 2025. Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration. PLoS Genet — PubMed:PMID41325489 | DOI:10.1371/journal.pgen.1011961 — 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:609868 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:604232 (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."