Briard — Retinal dystrophy; congenital stationary night blindness (CSNB) (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_briard_retinal_dystrophy_congenital_stationary_night_blindness_csnb_dog category: companion-breed-health title: "Briard — Retinal dystrophy; congenital stationary night blindness (CSNB) (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/briard_retinal_dystrophy_congenital_stationary_night_blindness_csnb_2111.txt date_parsed: 2026-08-02 tokens_estimated: 161 verification: method: substring_match claims: 5 passed: 5 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_briard_retinal_dystrophy_congenital_stationary_night_blindness_csnb_dog/01_companion_breed_health_briard_retinal_dystrophy_congenital_stationary_night_blindness_csnb_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: "Briard — Retinal dystrophy; congenital stationary night blindness (CSNB) (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001222/9615/" 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

Briard — Retinal dystrophy; congenital stationary night blindness (CSNB) (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: Briard (Dog)
• Disorder: Retinal dystrophy; congenital stationary night blindness (CSNB)
• Mode of inheritance: Autosomal recessive
• Clin feat: Kondo et al. (2015) reported that the diagnosis of this disorder as congenital stationary night blindness by Narfström et al. (1989) was actually incorrect, and that the disorder described in this OMIA entry is not actually congenital stationary night blindness. Kondo et al. (2015) do not provide any suggestions as to the correct diagnosis.
• 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 403803 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Despite much molecular detective work, the cause of this particular disorder in Swedish Briards remained a mystery for many years. In two papers, Veske et al. (1997) excluded four genes as the source of the mutation causing the disorder: arrestin, rhodopsin, beta-subunit of photoreceptor-specific phosphodiesterase by segregation analysis, and rod photoreceptor cgmp-gated cation channel alpha-subun…

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.

• 1989. The Briard dog - A new animal model of congenital stationary night blindness. Br J Ophthalmol — PubMed:PMID2804031 | DOI:10.1136/bjo.73.9.750 — OMIA Phene_Article / Article
• 1996. Retinal pigment epithelial dystrophy in Briard dogs. Research in Veterinary Science — PubMed:PMID8745249 — OMIA Phene_Article / Article
• 1997. Lipids of plasma, retina, and retinal pigment epithelium in Swedish Briard dogs with a slowly progressive retinal dystrophy. Experimental Eye Research — PubMed:PMID9176051 | DOI:10.1006/exer.1996.0195 — OMIA Phene_Article / Article
• 1997. Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy. Current Eye Research — PubMed:PMID9088745 — OMIA Phene_Article / Article
• 1997. Cases of inherited retinal pigmented epithelium dystrophy in wire-haired fox terrier - an original clinical study and a review of literature [French]. Revue de Medecine Veterinaire — OMIA Phene_Article / Article
• 1997. Characterization of canine rod photoreceptor cgmp-gated cation channel alpha-subunit gene and exclusion of its involvement in the hereditary retinal dystrophy of Swedish Briards. Gene — PubMed:PMID9427553 — OMIA Phene_Article / Article
• 1998. Organization of the canine gene encoding the E isoform of retinal guanylate cyclase (CGC-E) and exclusion of its involvement in the inherited retinal dystrophy of the Swedish Briard and Briard-Beagle dogs. Biochimica et Biophysica Acta - Biomembranes — OMIA Phene_Article / Article
• 1999. Retinal dystrophy of Swedish briard briard-beagle dogs is due to a 4-bp deletion in RPE65. Genomics — PubMed:PMID10191083 | DOI:10.1006/geno.1999.5754 — OMIA Phene_Article / Article
• 2001. Congenital stationary night blindness in briards in the UK. Veterinary Record — PubMed:PMID11316301 — OMIA Phene_Article / Article
• 2001. Congenital stationary night blindness in briards in the UK. Veterinary Record — PubMed:PMID11334084 — OMIA Phene_Article / Article
• 2002. Microdeletion in the RPE65 gene causing hereditary retinal dystrophy (HRD) disease segregates in the Polish population of Briards. Medycyna Weterynaryjna — OMIA Phene_Article / Article
• 2002. Vitamin E deficiency in dogs with retinal pigment epithelial dystrophy. Veterinary Record — PubMed:PMID12498409 — OMIA Phene_Article / Article
• (40 additional references in OMIA)

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:204100 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:180069 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:613794 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:618697 (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."