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The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.
Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME. Athanasiou D, et al. Prog Retin Eye Res. 2018 Jan;62:1-23. doi: 10.1016/j.preteyeres.2017.10.002. Epub 2017 Oct 16. Prog Retin Eye Res. 2018. PMID: 29042326 Free PMC article. Review.
Over 150 different mutations in rhodopsin have been identified and, collectively, they are the most common cause of autosomal dominant RP (adRP). Mutations in rhodopsin are also associated with dominant congenital stationary night blindness (adCSNB) an …
Over 150 different mutations in rhodopsin have been identified and, collectively, they are the most common cause of autosomal dominant RP (a …
Genomic DNA nanoparticles rescue rhodopsin-associated retinitis pigmentosa phenotype.
Han Z, Banworth MJ, Makkia R, Conley SM, Al-Ubaidi MR, Cooper MJ, Naash MI. Han Z, et al. FASEB J. 2015 Jun;29(6):2535-44. doi: 10.1096/fj.15-270363. Epub 2015 Feb 24. FASEB J. 2015. PMID: 25713057 Free PMC article.
Mutations in the rhodopsin gene cause retinal degeneration and clinical phenotypes including retinitis pigmentosa (RP) and congenital stationary night blindness. ...
Mutations in the rhodopsin gene cause retinal degeneration and clinical phenotypes including retinitis pigmentosa (RP) and congeni
'On' response defect in paraneoplastic night blindness with cutaneous malignant melanoma.
Alexander KR, Fishman GA, Peachey NS, Marchese AL, Tso MO. Alexander KR, et al. Invest Ophthalmol Vis Sci. 1992 Mar;33(3):477-83. Invest Ophthalmol Vis Sci. 1992. PMID: 1544774
During ERG testing with flashes of extended duration, the cone b-wave abnormality was found to be a predominant loss of the cone ERG "on" response with relative preservation of the "off" response, similar to that observed in patients with congenital stationary ni
During ERG testing with flashes of extended duration, the cone b-wave abnormality was found to be a predominant loss of the cone ERG "on" re …
Electroretinographic abnormalities associated with pregabalin: a case report.
Ninomiya W, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T. Ninomiya W, et al. Doc Ophthalmol. 2020 Jun;140(3):279-287. doi: 10.1007/s10633-019-09743-1. Epub 2020 Jan 3. Doc Ophthalmol. 2020. PMID: 31900741
However, full-field electroretinography (ERG) of the left eye revealed a decreased b-wave in rod ERG, a slightly decreased a-wave and severely decreased b-wave (negative ERG) in bright flash ERG, decreased a- and b-waves in cone ERG, and decreased b-waves in 30-Hz flicker ERG. Th …
However, full-field electroretinography (ERG) of the left eye revealed a decreased b-wave in rod ERG, a slightly decreased a-wave and severe …
Correlation of clinicopathologic findings in a patient. Congenital night blindness, branch retinal vein occlusion, cilioretinal artery, drusen of the optic nerve head, and intraretinal pigmented lesion.
Vaghefi HA, Green WR, Kelley JS, Sloan LL, Hoover RE, Patz A. Vaghefi HA, et al. Arch Ophthalmol. 1978 Nov;96(11):2097-104. doi: 10.1001/archopht.1978.03910060477019. Arch Ophthalmol. 1978. PMID: 309759
The ocular clinicopathologic features of this unique patient were congenital stationary night blindness, drusen of the optic nerve head, cilioretinal artery, intraretinal pigmented lesion, and branch retinal vein occlusion. ...
The ocular clinicopathologic features of this unique patient were congenital stationary night blindness, drusen …
Evaluation of the Night Vision Spectacles on patients with impaired night vision.
Friedburg C, Serey L, Sharpe LT, Trauzettel-Klosinski S, Zrenner E. Friedburg C, et al. Graefes Arch Clin Exp Ophthalmol. 1999 Feb;237(2):125-36. doi: 10.1007/s004170050207. Graefes Arch Clin Exp Ophthalmol. 1999. PMID: 9987629 Clinical Trial.
METHODS: Eighteen patients with impaired night vision were tested, including those with retinitis pigmentosa (7), Usher syndrome (2), fundus albipunctatus (1) and complete (4) and incomplete (4) congenital stationary night blindness. Normal trichromats …
METHODS: Eighteen patients with impaired night vision were tested, including those with retinitis pigmentosa (7), Usher syndrome (2), fundus …
Towards mutation-independent silencing of genes involved in retinal degeneration by RNA interference.
Cashman SM, Binkley EA, Kumar-Singh R. Cashman SM, et al. Gene Ther. 2005 Aug;12(15):1223-8. doi: 10.1038/sj.gt.3302512. Gene Ther. 2005. PMID: 15877050
More than one hundred different mutations in the gene encoding rhodopsin are associated with a group of retinal degenerations including retinitis pigmentosa, congenital stationary night blindness and retinitis punctata albescens. ...
More than one hundred different mutations in the gene encoding rhodopsin are associated with a group of retinal degenerations including reti …