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Page 1
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 …
Congenital Achromatopsia and Macular Atrophy Caused by a Novel Recessive PDE6C Mutation (p.E591K).
Katagiri S, Hayashi T, Yoshitake K, Sergeev Y, Akahori M, Furuno M, Nishino J, Ikeo K, Tsunoda K, Tsuneoka H, Iwata T. Katagiri S, et al. Ophthalmic Genet. 2015 Jun;36(2):137-44. doi: 10.3109/13816810.2014.991932. Epub 2015 Jan 21. Ophthalmic Genet. 2015. PMID: 25605338
Molecular modeling showed that the mutation could cause a conformational change in the PDE6C protein and result in reduced phosphodiesterase activity. We also identified an OPN1SW mutation (p.G79R), which is associated with congenital tritan deficiencies, in the sis …
Molecular modeling showed that the mutation could cause a conformational change in the PDE6C protein and result in reduced phosphodiesterase …
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 …
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 …
Identification of the aberrantly methylated differentially expressed genes in proliferative diabetic retinopathy.
Miao A, Lu J, Wang Y, Mao S, Cui Y, Pan J, Li L, Luo Y. Miao A, et al. Exp Eye Res. 2020 Oct;199:108141. doi: 10.1016/j.exer.2020.108141. Epub 2020 Jul 25. Exp Eye Res. 2020. PMID: 32721427
Based on the PPI analysis, a total of eight hub genes were identified: CTGF, SERPINH1, LOX, RBP3, OTX2, RPE65, OPN1SW and NRL. It was hypothesized that the aberrant methylation of these genes might be related to the possible pathophysiology of PDR. ...
Based on the PPI analysis, a total of eight hub genes were identified: CTGF, SERPINH1, LOX, RBP3, OTX2, RPE65, OPN1SW and NRL. It was …
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 …
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 …
Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32.
Fitzgibbon J, Appukuttan B, Gayther S, Wells D, Delhanty J, Hunt DM. Fitzgibbon J, et al. Hum Genet. 1994 Jan;93(1):79-80. doi: 10.1007/BF00218919. Hum Genet. 1994. PMID: 8270261
Blue cone pigment (BCP) is one of three types of cone photoreceptors responsible for normal colour vision. ...
Blue cone pigment (BCP) is one of three types of cone photoreceptors responsible for normal colour vision. ...
Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency.
Baraas RC, Carroll J, Gunther KL, Chung M, Williams DR, Foster DH, Neitz M. Baraas RC, et al. J Opt Soc Am A Opt Image Sci Vis. 2007 May;24(5):1438-47. doi: 10.1364/josaa.24.001438. J Opt Soc Am A Opt Image Sci Vis. 2007. PMID: 17429491 Free PMC article.
Tritan color-vision deficiency is an autosomal dominant disorder associated with mutations in the short-wavelength-sensitive- (S-) cone-pigment gene. ...To date, it has not been possible to examine whether any loss of S-cone function is accompan …
Tritan color-vision deficiency is an autosomal dominant disorder associated with mutations in the short-wavelength-sensitive- (S …
53 results