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Canine Mendelian disease record

Congenital Stationary Night Blindness (Discovered in the Briard; CSNB)

Congenital Stationary Night Blindness (Discovered in the Briard; CSNB). Autosomal recessive. Observed in 0 of 266 breeds tested in the Sniff Atlas, with measured variant frequencies drawn from 242,664 dogs (Donner 2023). Whether a dog carrying this variant is at risk depends on the disease’s inheritance pattern; outcome also depends on penetrance, modifiers, and environment. The frequencies below describe variant prevalence, not confirmed disease incidence.

OMIA identifier
OMIA:001222-9615
Autosomal recessive
Linked gene
RPE65
Human counterpart
In humans, this gene is RPE65. OMIM 180069 In people, RPE65 appears tolerant of loss-of-function variation (gnomAD v4.1 constraint, LOEUF 1.00). Constraint measures intolerance to loss-of-function only and does not indicate importance; some tolerant genes cause disease through other mechanisms. In people, variants in the RPE65 gene are classified as pathogenic in ClinVar for 1 expert-reviewed condition.
Source dataset
Sniff Atlas v1.0.1 / DOI
The human connection

A model of human Leber congenital amaurosis 2

Dogs with this condition carry a change in RPE65. In people, changes in the same gene cause Leber congenital amaurosis 2. This canine condition is studied as a natural model of Leber congenital amaurosis 2 in people; it is not the same as that human diagnosis. Studying dogs can move medicine forward for everyone; the canine disease remains the subject.

In people, the disease is described as: Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RPE65 gene.

In humans it is also called: LCA2, amaurosis congenita of Leber, type 2, Leber congenital amaurosis type 2, RPE65 Leber congenital amaurosis.

MONDO:0008765 OMIM 204100OMIM 613794

Mapped from OMIA via the human disease's OMIM entry to the Mondo Disease Ontology (Monarch Initiative, CC-BY 4.0). Closely related human conditions exist for this gene. Sniff renders this as a model-of link; the canine disease remains the subject of this page.

The mechanism

Why this canine condition is studied

  1. 1 RPE65 is the isomerohydrolase of the retinoid cycle.
  2. 2 When it fails, the cycle stalls.
  3. 3 11-cis-retinal is not made.
  4. 4 Photoreceptors lose function.

An approved human product restores that cycle in people who meet the label. Dogs with this condition are a natural model of that mechanism. They are not human patients, and a pet Briard does not have Leber congenital amaurosis 2.

In people, the analog is Leber congenital amaurosis 2 (MONDO:0008765). The canine condition models that human disease. It is not the same diagnosis.

Labeled human product

The labeled human product is Luxturna, generically voretigene neparvovec-rzyl (AAV2-hRPE65v2), approved by the FDA on 19 December 2017 for people with biallelic RPE65 mutation-associated retinal dystrophy who have viable retinal cells. FDA label. This page does not recommend treatment for any dog.

Construct. The 2001 canine study used canine RPE65 cDNA. That construct is not the labeled human product. The labeled product uses a human-optimized RPE65 cDNA. Acland et al. 2001, Nature Genetics (PMID 11326284) ; Bennicelli 2008, Molecular Therapy ; Maguire 2008, New England Journal of Medicine ; Russell 2017, Lancet .

What still happens. Function can rise while degeneration continues. A measured improvement in vision is not the same as a halt to the underlying loss of photoreceptors. Cideciyan et al. 2013, PNAS (PMID 23341635) .

About this disease

From OMIA's curated record

Documented in OMIA (Online Mendelian Inheritance in Animals). This describes the disease as recorded in the published literature, not a prediction for any individual dog. As of 2026-08-27.

Summary

This disorder has been renamed in OMIA on the basis of the review by Miyadera et al. (2012). It is also known as retinal pigment epithelial dystrophy.

Clinical features

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.

Molecular genetics

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-subunit. In 1998, Veske et al. also excluded the gene for retinal guanylate cyclase isoform E. Then, finally, in 1998, Aguirre et al. showed that the disorder is due to 4bp deletion in the gene for a 65-kilodalton microsomal protein expressed in retinal pigment epithelium (RPE). The gene, called RPE65, had recently been shown to be mutated in the human homologue of this disorder (see link to OMIM on this page). The discovery was confirmed by Veske et al. (1999).

Human analog

OMIA links this condition to its human counterpart in OMIM (Mendelian Inheritance in Man), the place to read across to the deeper human literature for the same biology.

Disease · OMIM 204100 Disease · OMIM 613794 Disease · OMIM 618697 Gene · OMIM 180069

Source: OMIA (Nicholas, Tammen & the Sydney Informatics Hub), entry OMIA:001222-9615, doi:10.25910/2AMR-PV70 (CC-BY 4.0).

OMIA curates the disease definition, the clinical description and the reference list. The cross-species disease identity is Monarch's. Sniff renders these and adds the breed-level frequencies, the plain-language summary, and a stated reason wherever a number is missing.

The evidence

Published references

The peer-reviewed papers behind this disease, curated by OMIA. Starred entries are OMIA-designated landmark papers. Showing 6 of 52.

References curated by OMIA (Nicholas, Tammen & the Sydney Informatics Hub), doi:10.25910/2AMR-PV70 (CC-BY 4.0). Full list at the OMIA entry.

Your breed

See what Congenital Stationary Night Blindness (Discovered in the Briard; CSNB) looks like in your dog's breed.
Variant frequency by breed

Observed only in small-sample breeds

Maximum variant frequency per breed across variants in the Donner 2023 cohort, with . The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. The variant frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

  • Sniff Atlas v1.0.1 for the per-breed carrier frequencies:

    Gehring, M. (2026). Sniff Atlas v1.0.1. Zenodo. https://doi.org/10.5281/zenodo.20566358. CC-BY 4.0.

  • OMIA for the disease definition, inheritance, and gene assignment:

    Nicholas, F. W., & Tammen, I. (2024). OMIA. Sydney Informatics Hub, The University of Sydney. https://doi.org/10.25910/2AMR-PV70. Entry: OMIA:001222-9615.

  • Donner et al. 2023 for the breed × variant carrier-frequency cohort:

    Donner, J., Freyer, J., Davison, S., Anderson, H., Blades, M., Honkanen, L., et al. (2023). Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs. PLOS Genetics, 19(2), e1010651. https://doi.org/10.1371/journal.pgen.1010651.

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:001222-9615 · Donner et al. 2023 · gnomAD v4.1 (Karczewski 2020) · ClinVar (Landrum 2018)