{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:47:13Z","timestamp":1785422833020,"version":"3.56.0"},"reference-count":89,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01EY021731"],"award-info":[{"award-number":["R01EY021731"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"award":["R01EY021731"],"award-info":[{"award-number":["R01EY021731"]}],"id":[{"id":"https:\/\/ror.org\/01cwqze88","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Opsins are the light receptors in retinal rod and cone photoreceptor cells that initiate vision in response to a light stimulus. Rhodopsin is the opsin in rods, and the influence of mutations that disrupt its structure and function has been characterized in detail. Less is known about cone opsins, the opsins in cones, and their gene arrays. Cones are responsible for color vision and high visual acuity and operate under most lighting conditions. There are up to three types of cone opsins (L-, M-, and S-opsin) in most vertebrates, each defined by their distinct spectral sensitivities. Disruptions in the cone opsin gene array cause a variety of inherited retinal disorders, including blue cone monochromacy, Bornholm eye disease, and tritan color vision deficiency. In this review, we discuss what is known about cone opsin mutations and the inherited cone dysfunctions that they cause. We also present the available mouse models that are being used to better understand the pathophysiology promoted by cone opsin defects.<\/jats:p>","DOI":"10.3390\/cells15121098","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T05:56:31Z","timestamp":1781675791000},"page":"1098","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cone Opsins and Inherited Retinal Disease"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4997-9163","authenticated-orcid":false,"given":"Maya","family":"Tang","sequence":"first","affiliation":[{"name":"Department of Nutrition, Case Western Reserve University, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1638-9693","authenticated-orcid":false,"given":"Paul S.-H.","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Case Western Reserve University, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/eye.2015.236","article-title":"Why rods and cones?","volume":"30","author":"Lamb","year":"2016","journal-title":"Eye"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1113\/jphysiol.1979.sp012716","article-title":"Responses of retinal rods to single photons","volume":"288","author":"Baylor","year":"1979","journal-title":"J. Physiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1523\/JNEUROSCI.3571-04.2005","article-title":"The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes","volume":"25","author":"Chen","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1093\/hmg\/ddh173","article-title":"Photoreceptor-specific nuclear receptor NR2E3 functions as a transcriptional activator in rod photoreceptors","volume":"13","author":"Cheng","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/cne.902920402","article-title":"Human photoreceptor topography","volume":"292","author":"Curcio","year":"1990","journal-title":"J. Comp. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1083\/jcb.201508093","article-title":"Discs of mammalian rod photoreceptors form through the membrane evagination mechanism","volume":"211","author":"Ding","year":"2015","journal-title":"J. Cell Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1083\/jcb.116.3.659","article-title":"Localization of peripherin\/rds in the disk membranes of cone and rod photoreceptors: Relationship to disk membrane morphogenesis and retinal degeneration","volume":"116","author":"Arikawa","year":"1992","journal-title":"J. Cell Biol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/B978-0-12-417197-8.00001-8","article-title":"Constitutively active rhodopsin and retinal disease","volume":"70","author":"Park","year":"2014","journal-title":"Adv. Pharmacol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"4585","DOI":"10.1113\/JP282058","article-title":"Photoreceptor physiology and evolution: Cellular and molecular basis of rod and cone phototransduction","volume":"600","author":"Lamb","year":"2022","journal-title":"J. Physiol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1242\/dev.114.1.39","article-title":"Thyroid hormone receptors in chick retinal development: Differential expression of mRNAs for alpha and N-terminal variant beta receptors","volume":"114","author":"Sjoberg","year":"1992","journal-title":"Development"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1097\/WNR.0b013e32832a2c63","article-title":"Developmental expression of thyroid hormone receptor beta2 protein in cone photoreceptors in the mouse","volume":"20","author":"Ng","year":"2009","journal-title":"Neuroreport"},{"key":"ref_12","first-page":"1312","article-title":"Systematic immunolocalization of retinoid receptors in developing and adult mouse eyes","volume":"42","author":"Mori","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Xu, J., Zhao, C., and Kang, Y. (2024). The Formation and Renewal of Photoreceptor Outer Segments. Cells, 13.","DOI":"10.3390\/cells13161357"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1126\/science.2937147","article-title":"Molecular genetics of human color vision: The genes encoding blue, green, and red pigments","volume":"232","author":"Nathans","year":"1986","journal-title":"Science"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1002\/cne.903120411","article-title":"Distribution and morphology of human cone photoreceptors stained with anti-blue opsin","volume":"312","author":"Curcio","year":"1991","journal-title":"J. Comp. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1002\/cne.902550103","article-title":"Identification of a subtype of cone photoreceptor, likely to be blue sensitive, in the human retina","volume":"255","author":"Ahnelt","year":"1987","journal-title":"J. Comp. Neurol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1002\/cne.902730413","article-title":"Identification of the blue-sensitive cones in the mammalian retina by anti-visual pigment antibody","volume":"273","author":"Szel","year":"1988","journal-title":"J. Comp. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1016\/j.visres.2019.06.006","article-title":"The association between L:M cone ratio, cone opsin genes and myopia susceptibility","volume":"162","author":"Hagen","year":"2019","journal-title":"Vis. Res."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.devcel.2020.04.009","article-title":"Single-Cell Analysis of Human Retina Identifies Evolutionarily Conserved and Species-Specific Mechanisms Controlling Development","volume":"53","author":"Lu","year":"2020","journal-title":"Dev. Cell"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.jneumeth.2017.04.007","article-title":"Light and the laboratory mouse","volume":"300","author":"Peirson","year":"2018","journal-title":"J. Neurosci. Methods"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.tins.2013.10.004","article-title":"Measuring and using light in the melanopsin age","volume":"37","author":"Lucas","year":"2014","journal-title":"Trends Neurosci."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1017\/S0952523800174036","article-title":"In search of the visual pigment template","volume":"17","author":"Govardovskii","year":"2000","journal-title":"Vis. Neurosci."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1527","DOI":"10.1152\/physrev.00027.2018","article-title":"Diverse Cell Types, Circuits, and Mechanisms for Color Vision in the Vertebrate Retina","volume":"99","author":"Thoreson","year":"2019","journal-title":"Physiol. Rev."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1167\/10.8.12","article-title":"The dimensionality of color vision in carriers of anomalous trichromacy","volume":"10","author":"Jordan","year":"2010","journal-title":"J. Vis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1016\/0042-6989(93)90143-K","article-title":"A study of women heterozygous for colour deficiencies","volume":"33","author":"Jordan","year":"1993","journal-title":"Vis. Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"719","DOI":"10.1364\/JOSA.71.000719","article-title":"Four cone pigments in women heterozygous for color deficiency","volume":"71","author":"Nagy","year":"1981","journal-title":"J. Opt. Soc. Am."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"R950","DOI":"10.1016\/j.cub.2005.11.031","article-title":"Multidimensional scaling reveals a color dimension unique to \u2018color-deficient\u2019 observers","volume":"15","author":"Bosten","year":"2005","journal-title":"Curr. Biol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"3221","DOI":"10.1016\/S0042-6989(98)00076-5","article-title":"Expression of L cone pigment gene subtypes in females","volume":"38","author":"Neitz","year":"1998","journal-title":"Vis. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.preteyeres.2009.05.003","article-title":"Structure of cone photoreceptors","volume":"28","author":"Mustafi","year":"2009","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.visres.2010.12.002","article-title":"The genetics of normal and defective color vision","volume":"51","author":"Neitz","year":"2011","journal-title":"Vis. Res."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1093\/hmg\/2.9.1413","article-title":"Haplotype diversity in the human red and green opsin genes: Evidence for frequent sequence exchange in exon 3","volume":"2","author":"Winderickx","year":"1993","journal-title":"Hum. Mol. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1136\/bjophthalmol-2014-306505","article-title":"The cone dysfunction syndromes","volume":"100","author":"Aboshiha","year":"2016","journal-title":"Br. J. Ophthalmol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1038\/352798a0","article-title":"Is colour vision possible with only rods and blue-sensitive cones?","volume":"352","author":"Reitner","year":"1991","journal-title":"Nature"},{"key":"ref_34","first-page":"876","article-title":"Blue cone monochromacy: Causative mutations and associated phenotypes","volume":"15","author":"Gardner","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/j.1755-3768.1988.tb04039.x","article-title":"X-linked myopia in Danish family","volume":"66","author":"Haim","year":"1988","journal-title":"Acta Ophthalmol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1399-0004.1990.tb03582.x","article-title":"X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq","volume":"38","author":"Schwartz","year":"1990","journal-title":"Clin. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1016\/j.ophtha.2005.02.021","article-title":"X-linked cone dysfunction syndrome with myopia and protanopia","volume":"112","author":"Michaelides","year":"2005","journal-title":"Ophthalmology"},{"key":"ref_38","first-page":"1354","article-title":"Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants","volume":"35","author":"Gardner","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1361","DOI":"10.1167\/iovs.12-11156","article-title":"Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy","volume":"54","author":"McClements","year":"2013","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_40","first-page":"498","article-title":"Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin","volume":"50","author":"Weitz","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1126\/science.2788922","article-title":"Molecular genetics of human blue cone monochromacy","volume":"245","author":"Nathans","year":"1989","journal-title":"Science"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1073\/pnas.022629799","article-title":"Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes","volume":"99","author":"Smallwood","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"5251","DOI":"10.1073\/pnas.96.9.5251","article-title":"Mutually exclusive expression of human red and green visual pigment-reporter transgenes occurs at high frequency in murine cone photoreceptors","volume":"96","author":"Wang","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1989","DOI":"10.1016\/j.visres.2010.07.009","article-title":"Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic","volume":"50","author":"Carroll","year":"2010","journal-title":"Vis. Res."},{"key":"ref_45","first-page":"13","article-title":"Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene","volume":"5","author":"Ayyagari","year":"1999","journal-title":"Mol. Vis."},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Neitz, M., and Neitz, J. (2021). Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders. Genes, 12.","DOI":"10.20944\/preprints202107.0202.v1"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"28253","DOI":"10.1038\/srep28253","article-title":"De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy","volume":"6","author":"Ruther","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1017\/S0952523804213293","article-title":"Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope","volume":"21","author":"Neitz","year":"2004","journal-title":"Vis. Neurosci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"8461","DOI":"10.1073\/pnas.0401440101","article-title":"Functional photoreceptor loss revealed with adaptive optics: An alternate cause of color blindness","volume":"101","author":"Carroll","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.bbrc.2012.06.094","article-title":"Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect","volume":"424","author":"Ueyama","year":"2012","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"3884","DOI":"10.1167\/iovs.09-4592","article-title":"Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array","volume":"51","author":"Merin","year":"2010","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"3853","DOI":"10.1167\/iovs.16-19608","article-title":"Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency","volume":"57","author":"Patterson","year":"2016","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1167\/iovs.16-21405","article-title":"Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA\/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X","volume":"58","author":"Orosz","year":"2017","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.visres.2012.12.012","article-title":"X-linked cone dystrophy and colour vision deficiency arising from a missense mutation in a hybrid L\/M cone opsin gene","volume":"80","author":"McClements","year":"2013","journal-title":"Vis. Res."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1080\/13816810.2018.1561902","article-title":"Novel mutations in the OPN1LW and NR2R3 genes in a patient with blue cone monochromacy","volume":"40","author":"Cai","year":"2019","journal-title":"Ophthalmic Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0006-291X(02)00458-8","article-title":"Novel missense mutations in red\/green opsin genes in congenital color-vision deficiencies","volume":"294","author":"Ueyama","year":"2002","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ajhg.2010.05.019","article-title":"X-linked cone dystrophy caused by mutation of the red and green cone opsins","volume":"87","author":"Gardner","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1038\/ng0792-251","article-title":"Defective colour vision associated with a missense mutation in the human green visual pigment gene","volume":"1","author":"Winderickx","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"20948","DOI":"10.1073\/pnas.0910128106","article-title":"Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin","volume":"106","author":"Carroll","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_60","first-page":"987","article-title":"Genetic heterogeneity among blue-cone monochromats","volume":"53","author":"Nathans","year":"1993","journal-title":"Am. J. Hum. Genet."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"11507","DOI":"10.1038\/s41598-018-29891-9","article-title":"Genotype determination of the OPN1LW\/OPN1MW genes: Novel disease-causing mechanisms in Japanese patients with blue cone monochromacy","volume":"8","author":"Katagiri","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1017\/S0952523806233169","article-title":"A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect","volume":"23","author":"Gunther","year":"2006","journal-title":"Vis. Neurosci."},{"key":"ref_63","first-page":"444","article-title":"Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment","volume":"51","author":"Weitz","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.visres.2012.09.007","article-title":"Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities","volume":"73","author":"Baraas","year":"2012","journal-title":"Vis. Res."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1438","DOI":"10.1364\/JOSAA.24.001438","article-title":"Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency","volume":"24","author":"Baraas","year":"2007","journal-title":"J. Opt. Soc. Am. A Opt. Image Sci. Vis."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Zhen, F., Zou, T., Wang, T., Zhou, Y., Dong, S., and Zhang, H. (2023). Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies. Front. Neurosci., 17.","DOI":"10.3389\/fnins.2023.1132179"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.preteyeres.2017.10.002","article-title":"The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy","volume":"62","author":"Athanasiou","year":"2018","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"168254","DOI":"10.1016\/j.bbadis.2026.168254","article-title":"Molecular and cellular impact of a C203R\/C198R M-opsin mutation","volume":"1872","author":"Vasudevan","year":"2026","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"8459","DOI":"10.1073\/pnas.85.22.8459","article-title":"Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin","volume":"85","author":"Karnik","year":"1988","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"17520","DOI":"10.1016\/S0021-9258(18)38195-X","article-title":"Assembly of functional rhodopsin requires a disulfide bond between cysteine residues 110 and 187","volume":"265","author":"Karnik","year":"1990","journal-title":"J. Biol. Chem."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1016\/S0161-6420(95)30972-4","article-title":"Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa","volume":"102","author":"Richards","year":"1995","journal-title":"Ophthalmology"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1932","DOI":"10.1073\/pnas.96.5.1932","article-title":"Structure and function in rhodopsin: Further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function","volume":"96","author":"Hwa","year":"1999","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1038\/s41467-024-45748-4","article-title":"Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa","volume":"15","author":"Vasudevan","year":"2024","journal-title":"Nat. Commun."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/s41420-025-02311-4","article-title":"A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration","volume":"11","author":"Vasudevan","year":"2025","journal-title":"Cell Death Discov."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"e70848","DOI":"10.1096\/fj.202501043R","article-title":"Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration","volume":"39","author":"Vasudevan","year":"2025","journal-title":"FASEB J."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"e172834","DOI":"10.1172\/jci.insight.172834","article-title":"Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation","volume":"9","author":"Sechrest","year":"2024","journal-title":"JCI Insight"},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Sechrest, E.R., Barbera, R.J., Ma, X., Dyka, F., Ahn, J., Brothers, B.A., Cahill, M.E., Hall, I., Baehr, W., and Deng, W.T. (2024). Expression of red\/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function. Front. Neurosci., 18.","DOI":"10.3389\/fnins.2024.1368089"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"A26","DOI":"10.1364\/JOSAA.381919","article-title":"Tritan color vision deficiency may be associated with an OPN1SW splicing defect and haploinsufficiency","volume":"37","author":"Neitz","year":"2020","journal-title":"J. Opt. Soc. Am. A Opt. Image Sci. Vis."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/978-1-62703-080-9_2","article-title":"Mouse models for studies of retinal degeneration and diseases","volume":"935","author":"Chang","year":"2013","journal-title":"Methods Mol. Biol."},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Krebs, M.P., Collin, G.B., Hicks, W.L., Yu, M., Charette, J.R., Shi, L.Y., Wang, J., Naggert, J.K., Peachey, N.S., and Nishina, P.M. (2017). Mouse models of human ocular disease for translational research. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0183837"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1002\/cne.901880205","article-title":"Rods and cones in the mouse retina. II. Autoradiographic analysis of cell generation using tritiated thymidine","volume":"188","author":"LaVail","year":"1979","journal-title":"J. Comp. Neurol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/cne.901880204","article-title":"Rods and cones in the mouse retina. I. Structural analysis using light and electron microscopy","volume":"188","author":"LaVail","year":"1979","journal-title":"J. Comp. Neurol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1007\/s00424-006-0194-y","article-title":"Phototransduction in mouse rods and cones","volume":"454","author":"Fu","year":"2007","journal-title":"Pflug. Arch."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0896-6273(00)00062-3","article-title":"The murine cone photoreceptor: A single cone type expresses both S and M opsins with retinal spatial patterning","volume":"27","author":"Applebury","year":"2000","journal-title":"Neuron"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"e56840","DOI":"10.7554\/eLife.56840","article-title":"True S-cones are concentrated in the ventral mouse retina and wired for color detection in the upper visual field","volume":"9","author":"Kunze","year":"2020","journal-title":"Elife"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"6690","DOI":"10.1038\/s41598-017-06982-7","article-title":"Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy","volume":"7","author":"Zhang","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"201657","DOI":"10.1016\/j.omta.2025.201657","article-title":"Gene therapy rescues cone function in opn1mw\u2212\/\u2212\/opn1sw\u2212\/\u2212\/Nrl\u2212\/\u2212 mice, an all-cone model of blue cone monochromacy","volume":"34","author":"Cahill","year":"2026","journal-title":"Mol. Ther. Adv."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1017\/S0952523813000515","article-title":"S-opsin knockout mice with the endogenous M-opsin gene replaced by an L-opsin variant","volume":"31","author":"Greenwald","year":"2014","journal-title":"Vis. Neurosci."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1167\/tvst.6.3.2","article-title":"Role of a Dual Splicing and Amino Acid Code in Myopia, Cone Dysfunction and Cone Dystrophy Associated with L\/M Opsin Interchange Mutations","volume":"6","author":"Greenwald","year":"2017","journal-title":"Transl. Vis. Sci. Technol."}],"container-title":["Cells"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4409\/15\/12\/1098\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T04:49:10Z","timestamp":1781844550000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4409\/15\/12\/1098"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,17]]},"references-count":89,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["cells15121098"],"URL":"https:\/\/doi.org\/10.3390\/cells15121098","relation":{},"ISSN":["2073-4409"],"issn-type":[{"value":"2073-4409","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,17]]}}}