OMIA:001486-9615 : Night blindness, congenital stationary, LRIT3-related in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 615004 (gene) , 615058 (trait)

Links to relevant human diseases in MONDO:

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Species-specific name: Congenital stationary night blindness

Species-specific symbol: CSNB

Species-specific description: 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.

Inheritance: Kondo et al. (2015): "o define the inheritance pattern for the disease, a colony of beagle dogs with CSNB was developed from 3 founder animals (F5858, M4 and M6233), and expanded by outcross, backcross and intercross to produce affected (n = 24) and obligate carrier (n = 22) dogs . . . . Dominant inheritance was excluded as the progeny (n = 11), both male and female, were phenotypically normal when affected dogs were outcrossed to unrelated normal dogs (expected = 5-6/11 dogs affected; observed = 0/11). When the progeny was used in backcrosses to affected animals, they produced affected and non-affected offspring in approximately 1:1 ratio as expected for an autosomal recessive disease. X-linked inheritance was ruled out as both sexes were affected in the pedigree. Eight of the nineteen offspring produced as a result of mating between obligate carrier and affected dogs had the CSNB phenotype. Mating between affected dogs resulted in pups all of which had the CSNB phenotype. These results are consistent with autosomal recessive mode of inheritance."

Mapping: Das et al. (2019): "A genome-wide association study using 12 cases and 11 controls from a research colony determined a 4.6 Mb locus on canine chromosome 32"

Molecular basis: 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"

Clinical features: 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."

Breed: Beagle (Dog) (VBO_0200131).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 Canis lupus familiaris 32 NC_051836.1 (30245558..30265027) LRIT3 Homologene, Ensembl , NCBI gene


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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
1260 Beagle (Dog) Night blindness, congenital stationary, LRIT3-related LRIT3 deletion, small (<=20) Naturally occurring variant CanFam3.1 32 g.30038863del c.763del p.(K245Nfs*5) c.763delG 2019 31578364

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001486-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Takahashi, K., Kwok, J.C., Sato, Y., Aguirre, G.D., Miyadera, K. :
Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness. Vision Res 209:108260, 2023. Pubmed reference: 37220680. DOI: 10.1016/j.visres.2023.108260.
2022 Miyadera, K., Santana, E., Roszak, K., Iffrig, S., Visel, M., Iwabe, S., Boyd, R.F., Bartoe, J.T., Sato, Y., Gray, A., Ripolles-Garcia, A., Dufour, V.L., Byrne, L.C., Flannery, J.G., Beltran, W.A., Aguirre, G.D. :
Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3-congenital stationary night blindness. Proc Natl Acad Sci U S A 119:e2117038119, 2022. Pubmed reference: 35316139. DOI: 10.1073/pnas.2117038119.
2021 Genetics Committee of the American College of Veterinary Opthalmologists :
The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition , 2021.
2020 Switonski, M. :
Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies. J Appl Genet 61:179-186, 2020. Pubmed reference: 32189222. DOI: 10.1007/s13353-020-00554-8.
2019 Das, R.G., Becker, D., Jagannathan, V., Goldstein, O., Santana, E., Carlin, K., Sudharsan, R., Leeb, T., Nishizawa, Y., Kondo, M., Aguirre, G.D., Miyadera, K. :
Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness. Sci Rep 9:14166, 2019. Pubmed reference: 31578364. DOI: 10.1038/s41598-019-50573-7.
2018 Oh, A., Loew, E.R., Foster, M.L., Davidson, M.G., English, R.V., Gervais, K.J., Herring, I.P., Mowat, F.M. :
Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs? Doc Ophthalmol , 2018. Pubmed reference: 30051304. DOI: 10.1007/s10633-018-9653-y.
2015 Kondo, M., Das, G., Imai, R., Santana, E., Nakashita, T., Imawaka, M., Ueda, K., Ohtsuka, H., Sakai, K., Aihara, T., Kato, K., Sugimoto, M., Ueno, S., Nishizawa, Y., Aguirre, G.D., Miyadera, K. :
A naturally occurring canine model of autosomal recessive congenital stationary night blindness. PLoS One 10:e0137072, 2015. Pubmed reference: 26368928. DOI: 10.1371/journal.pone.0137072.

Edit History

  • Created by Frank Nicholas on 20 Jan 2016
  • Changed by Frank Nicholas on 20 Jan 2016
  • Changed by Frank Nicholas on 30 Oct 2020
  • Changed by Imke Tammen2 on 25 May 2023
  • Changed by Imke Tammen2 on 16 Jun 2023