{"topic_id":"companion_breed_health_beagle_congenital_stationary_night_blindness_dog","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_beagle_congenital_stationary_night_blindness_dog\ncategory: companion-breed-health\ntitle: \"Beagle — Congenital stationary night blindness (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/beagle_congenital_stationary_night_blindness_3809.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 241\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_beagle_congenital_stationary_night_blindness_dog/01_companion_breed_health_beagle_congenital_stationary_night_blindness_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: \"Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001486/9615/\"\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# Beagle — Congenital stationary night blindness (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: Beagle (Dog)`\n- `Disorder: Congenital stationary night blindness`\n- `Mode of inheritance: Autosomal recessive`\n- `Summary: Kondo et al. (2015) reported a naturally occurring disease in the beagle dog that is a model for autosomal recessive [complete Congenital Stationary Night Blindness] cCSNB in man Miyadera et al. (2022) and Takahashi et al. (2023) report extended functional rescue following subretinal gene therapy.`\n- `Clin feat: Kondo et al. (2015) reported Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans.`\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: Entrez Gene ID 388305346 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene\n- OMIA molecular-genetics note: Sequencing of candidate genes by Kondo et al. (2015) failed to reveal any likely causal mutations. Das et al. (2019): \"whole-genome sequencing identified a 1 bp deletion in LRIT3 segregating with CSNB [in the same Beagle colony as reported by Kondo et al. (2015)]. The canine mutant LRIT3 gives rise to a truncated protein with unaltered subcellular expression in vitro\"\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- 2015. A naturally occurring canine model of autosomal recessive congenital stationary night blindness. PLoS One — PubMed:PMID26368928 | DOI:10.1371/journal.pone.0137072 — OMIA Phene_Article / Article\n- 2018. Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?. Doc Ophthalmol — PubMed:PMID30051304 | DOI:10.1007/s10633-018-9653-y — OMIA Phene_Article / Article\n- 2020. Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet — PubMed:PMID32189222 | DOI:10.1007/s13353-020-00554-8 — OMIA Phene_Article / Article\n- 2019. Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Sci Rep — PubMed:PMID31578364 | DOI:10.1038/s41598-019-50573-7 — OMIA Phene_Article / Article\n- 2022. Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness. Proc Natl Acad Sci U S A — PubMed:PMID35316139 | DOI:10.1073/pnas.2117038119 — OMIA Phene_Article / Article\n- 2023. Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness. Vision Res — PubMed:PMID37220680 | DOI:10.1016/j.visres.2023.108260 — 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- 2024. Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39739008 | DOI:10.1007/s00335-024-10091-y — 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. Correction: Canine models of inherited retinal diseases: from neglect to well-recognized translational value. Mamm Genome — PubMed:PMID39934341 | DOI:10.1007/s00335-025-10108-0 — 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\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:615004 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:615058 (type: trait) — 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 — Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition) (retrieved 2026-08-22)"],"source":{"authority":"companion-breed-health","title":"Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/26368928/","retrieved":"2026-08-22","ref":"PMID 26368928","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":663,"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."}