Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_beagle_congenital_stationary_night_blindness_dog category: companion-breed-health title: "Beagle — Congenital stationary night blindness (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/beagle_congenital_stationary_night_blindness_3809.txt date_parsed: 2026-08-02 tokens_estimated: 241 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_beagle_congenital_stationary_night_blindness_dog/01_companion_breed_health_beagle_congenital_stationary_night_blindness_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: "Beagle — Congenital stationary night blindness (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001486/9615/" 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

Beagle — Congenital stationary night blindness (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: Beagle (Dog)
• Disorder: Congenital stationary night blindness
• Mode of inheritance: Autosomal recessive
• 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.
• 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.
• 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 388305346 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• 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"

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.

• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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
• 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. 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
• 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

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:615004 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:615058 (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."