ArticleAmerican journal of human genetics2013
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 1 of them a synthesis that pooled it.
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Who cites it
81 citing papers in PubMed, 1 synthesis or guideline pooled it, 135 citations in OpenAlex.
- Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.BMC ophthalmology · 2026Pooled it
- Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.Acta ophthalmologica · 2026Article
- Gene augmentation therapy successfully treats mice with complete congenital stationary night blindness (cCSNB), improving retinal function and visual acuity.Gene therapy · 2026Article
- A novel NYX gene mutation identified in a Chinese Northeast Han family with high myopia and night blindness.BMC ophthalmology · 2026Article
- Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.Human mutation · 2026Article
- Review
- Exome analysis reveals species divergence in TYR and identifies species genetic markers in five endemic Macaca species on Sulawesi Island.BMC ecology and evolution · 2025Article
- Review of Four Refined Clinical Entities in Hereditary Retinal Disorders from Japan.International journal of molecular sciences · 2025Review
- Efficient in vivo labeling of endogenous proteins with SMART delineates retina cellular and synaptic organization.Nature communications · 2025Article
- Characterising the refractive error in paediatric patients with congenital stationary night blindness: a multicentre study.The British journal of ophthalmology · 2025Article
- DominantFrontiers in cell and developmental biology · 2025Article
- Loss of ON-Pathway Function in Mice Lacking Lrit3 Decreases Recovery From Lens-Induced Myopia.Investigative ophthalmology & visual science · 2024Article
- 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
- Novel Exon 7 Deletions inGenes · 2023Review
- Mice LackingInternational journal of molecular sciences · 2022Article
- Post-developmental plasticity of the primary rod pathway allows restoration of visually guided behaviors.Current biology : CB · 2022Article
- Targeting ON-bipolar cells by AAV gene therapy stably reversesProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.Journal of cell communication and signaling · 2021Review
21 more citing papers are in PubMed but not listed here.
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Authors and funding
26 authors at 7 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. Individuals with cCSNB have visual impairment under low-light conditions and show a characteristic electroretinogram (ERG). The b-wave amplitude is severely reduced in the dark-adapted state of the ERG, representing abnormal function of ON bipolar cells. Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform. The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far. Whole-exome sequencing in one simplex cCSNB case lacking mutations in the known genes led to the identification of a missense mutation (c.983G>A [p.Cys328Tyr]) and a nonsense mutation (c.1318C>T [p.Arg440(∗)]) in LRIT3, encoding leucine-rich-repeat (LRR), immunoglobulin-like, and transmembrane-domain 3 (LRIT3). Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384(∗)]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs(∗)59]) in the same gene. Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB. The exact role of this LRR protein in cCSNB remains to be elucidated.
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