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2015 2
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103 results

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Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M, Robson AG, Fujinami K, de Guimarães TAC, Fujinami-Yokokawa Y, Daich Varela M, Pontikos N, Kalitzeos A, Mahroo OA, Webster AR, Michaelides M. Georgiou M, et al. Prog Retin Eye Res. 2024 May;100:101244. doi: 10.1016/j.preteyeres.2024.101244. Epub 2024 Jan 24. Prog Retin Eye Res. 2024. PMID: 38278208 Review.
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), Best disease (BEST1), PRPH2-associated pattern dystrophy, Sorsby fundus dystrophy (TIMP3), and autosomal dominant drusen (EFEMP1)), (ii) cone …
Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt disease (ABCA4), X-linked retinoschisis (RS1), B …
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies.
De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. De Silva SR, et al. Prog Retin Eye Res. 2021 May;82:100898. doi: 10.1016/j.preteyeres.2020.100898. Epub 2020 Aug 26. Prog Retin Eye Res. 2021. PMID: 32860923 Free article. Review.
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), CHM (choroideremia), RS1 (X-linked retinoschisis), NYX (complete congenital stationary night blindness (CSNB)), CACNA1F (incomplete CSNB), …
We consider in detail the following: RPGR (associated with retinitis pigmentosa, cone and cone-rod dystrophy), RP2 (retinitis pigmentosa), C …
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q. Jiang Y, et al. J Transl Med. 2024 Jan 19;22(1):75. doi: 10.1186/s12967-024-04886-5. J Transl Med. 2024. PMID: 38243264 Free PMC article.
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and C …
Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome …
Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders.
Neitz M, Neitz J. Neitz M, et al. Genes (Basel). 2021 Jul 29;12(8):1180. doi: 10.3390/genes12081180. Genes (Basel). 2021. PMID: 34440353 Free PMC article. Review.
Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color vision. Furthermore, they are critically important in the visual feedback mechanism that regulates refractive development of the eye …
Except at very low light levels when rods are active, all vision is based on cones. Cones mediate high acuity vision and color …
Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy.
Cai B, Li Z, Sun S, Wang L, Chen L, Yang J, Li X. Cai B, et al. Ophthalmic Genet. 2019 Feb;40(1):43-48. doi: 10.1080/13816810.2018.1561902. Epub 2019 Jan 7. Ophthalmic Genet. 2019. PMID: 30614359
BACKGROUND: To clarify the diagnosis of a Chinese patient with novel double heterozygous in the NR2E3 and OPN1LW genes and describe the clinical features. MATERIALS AND METHODS: A 47-year-old man presented with an 8-year history of decreased vision and poor night …
BACKGROUND: To clarify the diagnosis of a Chinese patient with novel double heterozygous in the NR2E3 and OPN1LW genes and describe t …
Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy.
Deng WT, Li J, Zhu P, Chiodo VA, Smith WC, Freedman B, Baehr W, Pang J, Hauswirth WW. Deng WT, et al. Mol Vis. 2018 Jan 8;24:17-28. eCollection 2018. Mol Vis. 2018. PMID: 29386880 Free PMC article.
PURPOSE: Blue cone monochromacy (BCM) is an X-linked congenital vision disorder characterized by complete loss or severely reduced L- and M-cone function. ...METHODS: Adeno-associated virus type 5 (AAV5) vectors expressing OPN1LW, OPN1MW, or C-terminal tagged OPN …
PURPOSE: Blue cone monochromacy (BCM) is an X-linked congenital vision disorder characterized by complete loss or severely reduced L- …
Cross-species single-cell transcriptomic atlas of retinal photoreceptors reveals molecular signatures underlying color vision adaptation.
Li Z, Yan C, Lu Y, Shu Y, Wu S, Cheng X, Wang Y, Shen S, Yang H, Cao G, Ji J, Zhang L, Sun J, Xiao D, Li S, Qiu W. Li Z, et al. Cell Rep. 2025 Sep 23;44(9):116164. doi: 10.1016/j.celrep.2025.116164. Epub 2025 Aug 20. Cell Rep. 2025. PMID: 40839430 Free article.
The retina exhibits conserved structural and functional features across species, yet the evolutionary mechanisms underlying color vision remain unclear. Here, we employ a single-cell prediction (scPred) model to construct a cross-species single-cell retinal atlas from 24 s …
The retina exhibits conserved structural and functional features across species, yet the evolutionary mechanisms underlying color vision …
Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.
Wang Y, Sun W, Xiao X, Jiang Y, Ouyang J, Wang J, Yi Z, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q. Wang Y, et al. Invest Ophthalmol Vis Sci. 2023 Apr 3;64(4):29. doi: 10.1167/iovs.64.4.29. Invest Ophthalmol Vis Sci. 2023. PMID: 37097228 Free PMC article.
Four classes of variants were identified: haplotypes causing partial splicing defects in OPN1LW (LVAVA or LIVVA in 31 families), LVAVA in OPN1LW-OPN1MW hybrid gene (in 3 families), LIAVA in OPN1LW (in 29 families), and truncations in OPN1LW (in 5 famil …
Four classes of variants were identified: haplotypes causing partial splicing defects in OPN1LW (LVAVA or LIVVA in 31 families), LVAV …
Visual and ocular findings in a family with X-linked cone dysfunction and protanopia.
Holmquist D, Epstein D, Olsson M, Wissinger B, Kohl S, Hengstler J, Tear-Fahnehjelm K. Holmquist D, et al. Ophthalmic Genet. 2021 Oct;42(5):570-576. doi: 10.1080/13816810.2021.1938139. Epub 2021 Jul 21. Ophthalmic Genet. 2021. PMID: 34287097 Free article.
Both brothers had abnormal ERG recordings with a decreased cone response. They also had a structurally intact OPN1LW/OPN1MW gene cluster. The OPN1LW gene was shown to carry a deleterious variant combination in exon 3 known to result in mis-splicing of opsin mRNA and …
Both brothers had abnormal ERG recordings with a decreased cone response. They also had a structurally intact OPN1LW/OPN1MW gene clus …
Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.
Li X, Wang S, Wang Y, Chen R, Mao X, Mei Y, Xu M, Hu L, Qin C, Xing S, Yu X, Qiao L. Li X, et al. Invest Ophthalmol Vis Sci. 2025 Apr 1;66(4):30. doi: 10.1167/iovs.66.4.30. Invest Ophthalmol Vis Sci. 2025. PMID: 40227176 Free PMC article.
RESULTS: Pathogenic and likely pathogenic variants in 7 of 17 genes were identified in 47 of 389 probands with eoHM, including 21 in OPN1LW, 12 in ARR3, and 9 in GLRA2. For GLRA2, 15 pathogenic variants (10 missense and 5 truncation) were identified in 16 families, in whom …
RESULTS: Pathogenic and likely pathogenic variants in 7 of 17 genes were identified in 47 of 389 probands with eoHM, including 21 in OPN1 …
103 results