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56 results

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Page 1
Blue Cone Monochromatism.
Hartung KJ, Tsang SH, Sharma T, Diaconita V. Hartung KJ, et al. Adv Exp Med Biol. 2025;1467:73-75. doi: 10.1007/978-3-031-72230-1_14. Adv Exp Med Biol. 2025. PMID: 40736816 Review.
However, BCM patients have better visual acuity, preserved tritan discrimination, and myopia (as opposed to hyperopia in achromatopsia). Electrophysiology, psychophysical testing (using Berson plates), and family history (x-linked recessive vs. autosomal recessive) help di …
However, BCM patients have better visual acuity, preserved tritan discrimination, and myopia (as opposed to hyperopia in achromatopsi …
Color vision.
Swanson WH, Cohen JM. Swanson WH, et al. Ophthalmol Clin North Am. 2003 Jun;16(2):179-203. doi: 10.1016/s0896-1549(03)00004-x. Ophthalmol Clin North Am. 2003. PMID: 12809157 Review.
Color vision theory emphasizes several stages of visual processing: prereceptoral filters (lens, macular pigment, pupil), cone photopigments (L-, M-, and S-cones), and postreceptoral processes (red-green, S-cone, and luminance channels). Congenital color defects, wh …
Color vision theory emphasizes several stages of visual processing: prereceptoral filters (lens, macular pigment, pupil), cone photopigments …
Gene Therapy in Opn1mw(-/-)/Opn1sw(-/-) Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations.
Ma X, Sechrest ER, Fajardo D, Zhu P, Dyka F, Wang Y, Lobanova E, Boye SE, Baehr W, Deng WT. Ma X, et al. Hum Gene Ther. 2022 Jul;33(13-14):708-718. doi: 10.1089/hum.2021.298. Epub 2022 May 16. Hum Gene Ther. 2022. PMID: 35272502 Free PMC article.
To determine whether BCM cones lacking complete opsin expression from birth would benefit from AAV-mediated gene therapy, we evaluated the outcome of gene therapy, and determined the therapeutic window and longevity of rescue in a mouse model lacking both M- and S-opsin (Opn1mw(- …
To determine whether BCM cones lacking complete opsin expression from birth would benefit from AAV-mediated gene therapy, we evaluated the o …
The Verriest Lecture: Short-wave-sensitive cone pathways across the life span.
Werner JS. Werner JS. J Opt Soc Am A Opt Image Sci Vis. 2016 Mar;33(3):A104-22. doi: 10.1364/JOSAA.33.00A104. J Opt Soc Am A Opt Image Sci Vis. 2016. PMID: 26974914 Free PMC article. Review.
This would explain the celebrated results by Verriest and others demonstrating that the largest age-related color discrimination losses occur for stimuli on a tritan axis. Here, we challenge convention, arguing from psychophysical data that selective S-cone p …
This would explain the celebrated results by Verriest and others demonstrating that the largest age-related color discrimination losses occu …
Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency.
Neitz M, Krekling ED, Hagen LA, Pedersen HR, Rowlan J, Barborek R, Neitz J, Crain A, Baraas RC. Neitz M, et al. J Opt Soc Am A Opt Image Sci Vis. 2020 Apr 1;37(4):A26-A34. doi: 10.1364/JOSAA.381919. J Opt Soc Am A Opt Image Sci Vis. 2020. PMID: 32400513 Free PMC article.
The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disrupts RNA splicing in an in vitro assay. In order to gather further support for the role of the splicing mutation in tritan color visi …
The putative tritan subject was the only one of the 51 subjects found to be heterozygous for an OPN1SW gene mutation that disr …
Electrodiagnostic Biomarkers in Paraneoplastic Retinopathy.
Gougoulakis LS, Rothermundt C, Flynn MC, Jörger M, Todorova MG. Gougoulakis LS, et al. Klin Monbl Augenheilkd. 2024 Apr;241(4):510-524. doi: 10.1055/a-2227-3970. Epub 2024 Apr 23. Klin Monbl Augenheilkd. 2024. PMID: 38653300 English.
The presence of PNR was confirmed based on clinical examination, supported by colour fundus photography, fundus autofluorescence imaging, optical coherence tomography, fluorescein angiography, retinal vessel oximetry, colour test, full-field electroretinogram (ffERG), on-/off ERG …
The presence of PNR was confirmed based on clinical examination, supported by colour fundus photography, fundus autofluorescence imaging, op …
Identification and functional assays of single-nucleotide variants of opsins genes in melanocytic tumors.
Zhang W, Zeng W, Feng J, Li P, Wang Y, Lu H. Zhang W, et al. Pigment Cell Melanoma Res. 2022 Jul;35(4):436-449. doi: 10.1111/pcmr.13043. Epub 2022 Jun 4. Pigment Cell Melanoma Res. 2022. PMID: 35527357
Here, we examined single-nucleotide variants (SNVs) of five opsin (RGR, OPN1SW, OPN2, OPN4, and OPN5) genes in MM (malignant melanoma; n = 76) and MN (melanocytic nevi; n = 157), using next-generation sequencing. ...Taken together, these results revealed that p.A103V (RGR) …
Here, we examined single-nucleotide variants (SNVs) of five opsin (RGR, OPN1SW, OPN2, OPN4, and OPN5) genes in MM (malignant melanoma …
Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.
Sechrest ER, Ma X, Cahill ME, Barbera RJ, Wang Y, Deng WT. Sechrest ER, et al. JCI Insight. 2024 Jan 23;9(2):e172834. doi: 10.1172/jci.insight.172834. JCI Insight. 2024. PMID: 38060327 Free PMC article.
In this study, we generated and characterized a BCM mouse model carrying the equivalent C203R mutation (Opn1mwC198R Opn1sw-/-) to investigate the disease mechanism and develop a gene therapy approach for this disorder. Untreated Opn1mwC198R Opn1sw-/- cones phenocopi …
In this study, we generated and characterized a BCM mouse model carrying the equivalent C203R mutation (Opn1mwC198R Opn1sw-/-) to inv …
IMPAIRMENTS OF L-CONE/M-CONE AND S-CONE-MEDIATED COLOR DISCRIMINATION IN MACULAR TELANGIECTASIA TYPE II.
Simunovic MP, Gillies MC. Simunovic MP, et al. Retina. 2022 Mar 1;42(3):576-580. doi: 10.1097/IAE.0000000000003353. Retina. 2022. PMID: 35188496 Free PMC article.
PURPOSE: To characterize red-green and tritan color discrimination in eyes with macular telangiectasia Type II (MacTel). METHODS: Color discrimination was assessed by metameric matching methods using an Oculus MR Anomaloscope. ...CONCLUSION: MacTel results in a combined ac …
PURPOSE: To characterize red-green and tritan color discrimination in eyes with macular telangiectasia Type II (MacTel). METHODS: Col …
Nocturnal light environments influence color vision and signatures of selection on the OPN1SW opsin gene in nocturnal lemurs.
Veilleux CC, Louis EE Jr, Bolnick DA. Veilleux CC, et al. Mol Biol Evol. 2013 Jun;30(6):1420-37. doi: 10.1093/molbev/mst058. Epub 2013 Mar 21. Mol Biol Evol. 2013. PMID: 23519316
In this study, we explore the effect of nocturnal light environment on OPN1SW opsin gene evolution in a diverse sample of nocturnal lemurs (106 individuals, 19 species, and 5 genera). ...In contrast, closed canopy species experience weaker purifying selection or a relaxati …
In this study, we explore the effect of nocturnal light environment on OPN1SW opsin gene evolution in a diverse sample of nocturnal l …
56 results