Peer-reviewed veterinary case report
Gene deletion in LRIT3 linked to night blindness in dogs
By Das, Rueben G et al.·Published in Scientific reports·2019·Department of Clinical Sciences and Advanced Medicine, United States·View original on PubMed →
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Original publication title: Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness.
- Species:
- dog
Plain-English summary
A group of dogs with congenital stationary night blindness (CSNB) was studied to find the genetic cause of their vision problems in low light. Researchers discovered a specific deletion in a gene called LRIT3 that is linked to this condition. This genetic change affects the retina's ability to function properly, particularly in the cells responsible for transmitting visual signals. Understanding this genetic variant could help in developing new treatments for dogs suffering from CSNB.
People also search for: dog night blindness symptoms · congenital stationary night blindness in dogs · LRIT3 gene deletion in dogs
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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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/31578364/