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87 results

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Page 1
TRPM1.
Irie S, Furukawa T. Irie S, et al. Handb Exp Pharmacol. 2014;222:387-402. doi: 10.1007/978-3-642-54215-2_15. Handb Exp Pharmacol. 2014. PMID: 24756714 Review.
We further demonstrated that Trpm1 is a component of the transduction cation channel negatively regulated by the metabotropic glutamate receptor 6 (mGulR6) cascade in ON-bipolar cells through a reconstitution experiment using CHO cells expressing Trpm1, mGluR6, and Goalpha. Furth …
We further demonstrated that Trpm1 is a component of the transduction cation channel negatively regulated by the metabotropic glutamate rece …
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I. Zeitz C, et al. Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13. Prog Retin Eye Res. 2015. PMID: 25307992 Review.
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. ...
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retin …
Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI. Iosifidis C, et al. Acta Ophthalmol. 2022 Sep;100(6):e1332-e1339. doi: 10.1111/aos.15186. Epub 2022 May 28. Acta Ophthalmol. 2022. PMID: 35633130 Free article.
PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders that present in childhood. ...
PURPOSE: Congenital stationary night blindness (CSNB) is a heterogeneous group of Mendelian retinal disorders th …
Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P. Almutairi F, et al. Acta Ophthalmol. 2021 Sep;99(6):581-591. doi: 10.1111/aos.14693. Epub 2020 Dec 26. Acta Ophthalmol. 2021. PMID: 33369259 Free article. Review.
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resulting from dysfunction of several specific and essential visual processing mechanisms. ...
Congenital stationary night blindness (CSNB) is a group of rare, mainly stationary disorders of the retina, resu …
Multimodal imaging in Schubert-Bornschein congenital stationary night blindness.
Parodi MB, Arrigo A, Rajabian F, Mansour A, Mercuri S, Starace V, Bordato A, Manitto MP, Martina E, Bandello F. Parodi MB, et al. Ophthalmic Genet. 2023 Aug;44(4):408-413. doi: 10.1080/13816810.2022.2135108. Epub 2022 Oct 13. Ophthalmic Genet. 2023. PMID: 36226416
BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness (CSNB). The aim of the study is to describe the optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) fin …
BACKGROUND: Schubert-Bornschein (SB) is the most common type of people with congenital stationary night blindness …
Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A. Leahy KE, et al. Genes (Basel). 2021 Feb 25;12(3):330. doi: 10.3390/genes12030330. Genes (Basel). 2021. PMID: 33668843 Free PMC article.
Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of fir …
Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incom …
Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV. Miraldi Utz V, et al. JAMA Ophthalmol. 2018 Apr 1;136(4):389-398. doi: 10.1001/jamaophthalmol.2018.0185. JAMA Ophthalmol. 2018. PMID: 29522070 Free PMC article.
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. ...
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom bein …
NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.
Scanga HL, Liasis A, Pihlblad MS, Nischal KK. Scanga HL, et al. Ophthalmic Genet. 2021 Oct;42(5):588-592. doi: 10.1080/13816810.2021.1941129. Epub 2021 Jun 24. Ophthalmic Genet. 2021. PMID: 34165036
Background: Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogenous inherited retinal disorder associated with nystagmus, myopia, strabismus, defective dark adaptation, and decreased vision. ...
Background: Congenital Stationary Night Blindness (CSNB) is a clinically and genetically heterogenous inherited …
Photoreceptor and postreceptor responses in congenital stationary night blindness.
Raghuram A, Hansen RM, Moskowitz A, Fulton AB. Raghuram A, et al. Invest Ophthalmol Vis Sci. 2013 Jul 10;54(7):4648-58. doi: 10.1167/iovs.13-12111. Invest Ophthalmol Vis Sci. 2013. PMID: 23761088 Free PMC article.
PURPOSE: To investigate photoreceptor and postreceptor retinal function in patients with congenital stationary night blindness (CSNB). METHODS: Forty-one patients with CSNB (ages 0.19-32 years) were studied. ...
PURPOSE: To investigate photoreceptor and postreceptor retinal function in patients with congenital stationary night …
Macular sensitivity in patients with congenital stationary night-blindness.
William A, Kohl S, Zeitz C, Willmann G, Zrenner E, Bartz-Schmidt KU, Gekeler F, Schatz A. William A, et al. Br J Ophthalmol. 2019 Oct;103(10):1507-1510. doi: 10.1136/bjophthalmol-2018-313072. Epub 2018 Dec 20. Br J Ophthalmol. 2019. PMID: 30573500
AIM: To evaluate and correlate mean light sensitivity thresholds (MLST) in patients with congenital stationary night-blindness (CSNB) in comparison with healthy subjects using microperimetry (MP1). ...
AIM: To evaluate and correlate mean light sensitivity thresholds (MLST) in patients with congenital stationary night- …
87 results