ArticleScientific reports2019
Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Behavioral Convergence with Physiological Divergence: Sex Differences in Hormones but Not Social Behavior in Beagle Dogs.Animals : an open access journal from MDPI · 2026Article
- Two genes, one culprit - a functional candidate validation of a SPATA7 deletion in dogs with day blindness/retinal degeneration.PLoS genetics · 2025Article
- Myopia in Beagles in a Family of 12 Individuals.Animals : an open access journal from MDPI · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness.Vision research · 2023Article
- LRIT3 expression in cone photoreceptors restores post-synaptic bipolar cell signalplex assembly and partial function iniScience · 2023Article
- Article
- An unusual inherited electroretinogram feature with an exaggerated negative component in dogs.Veterinary ophthalmology · 2022Article
- Targeting ON-bipolar cells by AAV gene therapy stably reversesProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Substantial restoration of night vision in adult mice with congenital stationary night blindness.Molecular therapy. Methods & clinical development · 2021Article
- A New Mouse Model for Complete Congenital Stationary Night Blindness Due toInternational journal of molecular sciences · 2021Article
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Authors and funding
12 authors at 6 institutions in 4 countries.
Funding
Abstract
Congenital stationary night blindness (CSNB), in the complete form, is caused by dysfunctions in ON-bipolar cells (ON-BCs) which are secondary neurons of the retina. We describe the first disease causative variant associated with CSNB in the dog. 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. Subsequent whole-genome sequencing identified a 1 bp deletion in LRIT3 segregating with CSNB. The canine mutant LRIT3 gives rise to a truncated protein with unaltered subcellular expression in vitro. Genetic variants in LRIT3 have been associated with CSNB in patients although there is limited evidence regarding its apparently critical function in the mGluR6 pathway in ON-BCs. We determine that in the canine CSNB retina, the mutant LRIT3 is correctly localized to the region correlating with the ON-BC dendritic tips, albeit with reduced immunolabelling. The LRIT3-CSNB canine model has direct translational potential enabling studies to help understand the CSNB pathogenesis as well as to develop new therapies targeting the secondary neurons of the retina.
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