ArticleProceedings of the National Academy of Sciences of the United States of America2024
Dark continuous noise from mutant G90D-rhodopsin predominantly underlies congenital stationary night blindness.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed.
- The physiology of dark adaptation: Progress and future directions.Progress in retinal and eye research · 2025Review
- Gene therapy shines light on congenital stationary night blindness for future cures.Journal of translational medicine · 2025Review
- Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease.Neurobiology of disease · 2025Article
- Dark continuous noise from visual pigment as a major mechanism underlying rod-cone difference in light sensitivity.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- The mechanism of genetically inherited night blindness.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Grk1 Missense Mutations in Type II Oguchi Disease: A Literature Review.Annals of biomedical research · 2024Article
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Abstract
Congenital stationary night blindness (CSNB) is an inherited retinal disease that causes a profound loss of rod sensitivity without severe retinal degeneration. One well-studied rhodopsin point mutant, G90D-Rho, is thought to cause CSNB because of its constitutive activity in darkness causing rod desensitization. However, the nature of this constitutive activity and its precise molecular source have not been resolved for almost 30 y. In this study, we made a knock-in (KI) mouse line with a very low expression of G90D-Rho (equal in amount to ~0.1% of normal rhodopsin, WT-Rho, in WT rods), with the remaining WT-Rho replaced by REY-Rho, a mutant with a very low efficiency of activating transducin due to a charge reversal of the highly conserved ERY motif to REY. We observed two kinds of constitutive noise: one being spontaneous isomerization (R*) of G90D-Rho at a molecular rate (R* s
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