{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:00:57Z","timestamp":1790791257871,"version":"4.1.0"},"reference-count":84,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T00:00:00Z","timestamp":1627516800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["P30 EY01730, R01 EY028118"],"award-info":[{"award-number":["P30 EY01730, R01 EY028118"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research to Prevent Blindness","award":["Unrestricted Grant to Department of Ophthalmology"],"award-info":[{"award-number":["Unrestricted Grant to Department of Ophthalmology"]}]},{"name":"Bishop Foundation","award":["Jay Neitz is the Bishop Professor"],"award-info":[{"award-number":["Jay Neitz is the Bishop Professor"]}]},{"name":"Ray H. Hill Foundation","award":["Maureen Neitz is the Ray H. Hill Professor in Ophthalmology"],"award-info":[{"award-number":["Maureen Neitz is the Ray H. Hill Professor in Ophthalmology"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Light absorption by photopigment molecules expressed in the photoreceptors in the retina is the first step in seeing. Two types of photoreceptors in the human retina are responsible for image formation: rods, and cones. 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 during childhood. The human retina contains a mosaic of three cone types, short-wavelength (S), long-wavelength (L), and middle-wavelength (M) sensitive; however, the vast majority (~94%) are L and M cones. The OPN1LW and OPN1MW genes, located on the X-chromosome at Xq28, encode the protein component of the light-sensitive photopigments expressed in the L and M cones. Diverse haplotypes of exon 3 of the OPN1LW and OPN1MW genes arose thru unequal recombination mechanisms that have intermixed the genes. A subset of the haplotypes causes exon 3- skipping during pre-messenger RNA splicing and are associated with vision disorders. Here, we review the mechanism by which splicing defects in these genes cause vision disorders.<\/jats:p>","DOI":"10.3390\/genes12081180","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T21:21:21Z","timestamp":1627593681000},"page":"1180","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["Intermixing the OPN1LW and OPN1MW Genes Disrupts the Exonic Splicing Code Causing an Array of Vision Disorders"],"prefix":"10.3390","volume":"12","author":[{"given":"Maureen","family":"Neitz","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Vision Science Center, University of Washington, Seattle, WA 98109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay","family":"Neitz","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Vision Science Center, University of Washington, Seattle, WA 98109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nrg775","article-title":"Listening to silence and understanding nonsense: Exonic mutations that affect splicing","volume":"3","author":"Cartegni","year":"2002","journal-title":"Nat. Rev. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1093\/hmg\/ddg131","article-title":"New type of disease causing mutations: The example of the composite exonic regulatory elements of splicing in CFTR exon 12","volume":"12","author":"Pagani","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1038\/nrg2164","article-title":"Splicing in disease: Disruption of the splicing code and the decoding machinery","volume":"8","author":"Wang","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1002\/path.2649","article-title":"The pathobiology of splicing","volume":"220","author":"Ward","year":"2010","journal-title":"J. Pathol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1101\/gr.118638.110","article-title":"Loss of exon identity is a common mechanism of human inherited disease","volume":"21","author":"Howard","year":"2011","journal-title":"Genome Res."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/gb4150","article-title":"Exon identity crisis: Disease-causing mutations that disrupt the splicing code","volume":"15","author":"Sanford","year":"2014","journal-title":"Genome Biol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1254806","DOI":"10.1126\/science.1254806","article-title":"RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease","volume":"347","author":"Xiong","year":"2015","journal-title":"Science"},{"key":"ref_8","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_9","doi-asserted-by":"crossref","unstructured":"Parmley, J.L., Urrutia, A.O., Potrzebowski, L., Kaessmann, H., and Hurst, L.D. (2007). Splicing and the evolution of proteins in mammals. PLoS Biol., 5.","DOI":"10.1371\/journal.pbio.0050014"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1367","DOI":"10.1126\/science.1243490","article-title":"Exonic transcription factor binding directs codon choice and affects protein evolution","volume":"342","author":"Stergachis","year":"2013","journal-title":"Science"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1098\/rspb.1992.0021","article-title":"Sequence divergence and copy number of the middle- and long-wave photopigment genes in Old World monkeys","volume":"247","author":"Ibbotson","year":"1992","journal-title":"Proc. R. Soc. Lond. Ser. B Biol. Sci."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2483","DOI":"10.1016\/0042-6989(94)90233-X","article-title":"Sequence divergence, polymorphism and evolution of the middle-wave and long-wave visual pigment genes of great apes and old world monkeys","volume":"34","author":"Dulai","year":"1994","journal-title":"Vis. Res."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1006\/geno.1995.1088","article-title":"Sequence and evolution of the blue cone pigment gene in Old and New World primates","volume":"10","author":"Hunt","year":"1995","journal-title":"Genomics"},{"key":"ref_14","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_15","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1086\/423287","article-title":"Signatures of selection and gene conversion associated with human color vision variation","volume":"75","author":"Verrelli","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"ref_16","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_17","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1126\/science.2837827","article-title":"Tandem array of human visual pigment genes at Xq28","volume":"240","author":"Vollrath","year":"1988","journal-title":"Science"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1126\/science.3485310","article-title":"Molecular genetics of inherited variation in human color vision","volume":"232","author":"Nathans","year":"1986","journal-title":"Science"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1038\/nrg2193","article-title":"Gene conversion: Mechanisms, evolution and human disease","volume":"8","author":"Chen","year":"2007","journal-title":"Nat. Rev. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/nrg2689","article-title":"The evolution of gene duplications: Classifying and distinguishing between models","volume":"11","author":"Innan","year":"2010","journal-title":"Nat. Rev. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2395","DOI":"10.1016\/0042-6989(95)00008-9","article-title":"Polymorphism in the number of genes encoding long-wavelength sensitive cone pigments among males with normal color vision","volume":"35","author":"Neitz","year":"1995","journal-title":"Vis. Res."},{"key":"ref_22","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_23","doi-asserted-by":"crossref","first-page":"2957","DOI":"10.1098\/rstb.2009.0039","article-title":"Evolution of colour vision in mammals","volume":"364","author":"Jacobs","year":"2009","journal-title":"Philos. Trans. R. Soc. Lond. Ser. B Biol. Sci."},{"key":"ref_24","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_25","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1017\/S0952523804213384","article-title":"Characterization of a novel form of X-linked incomplete achromatopsia","volume":"21","author":"Crognale","year":"2004","journal-title":"Vis. Neurosci."},{"key":"ref_26","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_27","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":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"8006","DOI":"10.1167\/iovs.12-11087","article-title":"The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic","volume":"53","author":"Carroll","year":"2012","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_29","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_30","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_31","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_32","doi-asserted-by":"crossref","first-page":"4150","DOI":"10.1167\/iovs.14-16356","article-title":"Unique Variants in OPN1LW Cause Both Syndromic and Nonsyndromic X-Linked High Myopia Mapped to MYP1","volume":"56","author":"Li","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_33","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_34","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1126\/science.1903559","article-title":"Spectral tuning of pigments underlying red-green color vision","volume":"252","author":"Neitz","year":"1991","journal-title":"Science"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1167\/tvst.5.5.2","article-title":"Genetic Testing as a New Standard for Clinical Diagnosis of Color Vision Deficiencies","volume":"5","author":"Davidoff","year":"2016","journal-title":"Transl. Vis. Sci. Technol."},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Cavonius, C.R. (1997). Variety of photopigment genes underlying red-green color vision. Colour Vision Deficiencies XIII, Kluwer Academic Publishers.","DOI":"10.1007\/978-94-011-5408-6"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.visres.2004.04.011","article-title":"Analysis of L-cone\/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency","volume":"44","author":"Ueyama","year":"2004","journal-title":"Vis. Res."},{"key":"ref_38","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_39","doi-asserted-by":"crossref","first-page":"4238","DOI":"10.1167\/iovs.18-24699","article-title":"Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations","volume":"59","author":"Patterson","year":"2018","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_40","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."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1900","DOI":"10.1016\/j.febslet.2005.02.047","article-title":"Are splicing mutations the most frequent cause of hereditary disease?","volume":"579","author":"Audit","year":"2005","journal-title":"FEBS Lett."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/519276a","article-title":"The myopia boom","volume":"519","author":"Dolgin","year":"2015","journal-title":"Nature"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1016\/j.ophtha.2016.01.006","article-title":"Global Prevalence of Myopia and High Myopia and Temporal Trends from 2000 through 2050","volume":"123","author":"Holden","year":"2016","journal-title":"Ophthalmology"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/eye.2013.256","article-title":"Myopia, an underrated global challenge to vision: Where the current data takes us on myopia control","volume":"28","author":"Holden","year":"2014","journal-title":"Eye"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1111\/cxo.12339","article-title":"Nearly 1 billion myopes at risk of myopia-related sight-threatening conditions by 2050\u2014Time to act now","volume":"98","author":"Holden","year":"2015","journal-title":"Clin. Exp. Optom."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1632","DOI":"10.1001\/archophthalmol.2009.303","article-title":"Increased prevalence of myopia in the United States between 1971\u20131972 and 1999\u20132004","volume":"127","author":"Vitale","year":"2009","journal-title":"Arch. Ophthalmol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/opo.12305","article-title":"Age of onset of myopia predicts risk of high myopia in later childhood in myopic Singapore children","volume":"36","author":"Chua","year":"2016","journal-title":"Ophthalmic Physiol. Opt."},{"key":"ref_48","first-page":"35","article-title":"Myopia: A growing global problem with sight-threatening complications","volume":"28","author":"Holden","year":"2015","journal-title":"Community Eye Health"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1097\/ICU.0000000000000292","article-title":"Update on myopia","volume":"27","author":"Warner","year":"2016","journal-title":"Curr. Opin. Ophthalmol."},{"key":"ref_50","first-page":"1232","article-title":"Genes and Environment in Refractive Error: The Twin Eye Study","volume":"42","author":"Hammond","year":"2001","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1136\/bjo.85.12.1470","article-title":"The importance of genes and environment for ocular refraction and its determiners: A population based study among 20\u201345 year old twins","volume":"85","author":"Lyhne","year":"2001","journal-title":"Br. J. Ophthalmol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.1444-0938.2003.tb03124.x","article-title":"A synopsis of the prevalence rates and environmental risk factors for myopia","volume":"86","author":"Saw","year":"2003","journal-title":"Clin. Exp. Optom."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1167\/iovs.04-0740","article-title":"Heritability of refractive error and familial aggregation of myopia in an elderly American population","volume":"46","author":"Wojciechowski","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00439-006-0312-0","article-title":"Heritability and shared environment estimates for myopia and associated ocular biometric traits: The Genes in Myopia (GEM) family study","volume":"121","author":"Chen","year":"2007","journal-title":"Hum. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1167\/iovs.08-2385","article-title":"Estimating heritability and shared environmental effects for refractive error in twin and family studies","volume":"50","author":"Lopes","year":"2009","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"3344","DOI":"10.1167\/iovs.14-14149","article-title":"Genome-wide association studies of refractive error and myopia, lessons learned, and implications for the future","volume":"55","author":"Hysi","year":"2014","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1001\/jamaophthalmol.2013.6022","article-title":"Common mechanisms underlying refractive error identified in functional analysis of gene lists from genome-wide association study results in 2 European British cohorts","volume":"132","author":"Hysi","year":"2014","journal-title":"JAMA Ophthalmol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/eye.2016.257","article-title":"Evolution of the circuitry for conscious color vision in primates","volume":"31","author":"Neitz","year":"2017","journal-title":"Eye"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"8561","DOI":"10.1038\/s41598-018-26754-1","article-title":"Sensations from a single M-cone depend on the activity of surrounding S-cones","volume":"8","author":"Schmidt","year":"2018","journal-title":"Sci. Rep."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1038\/13185","article-title":"Trichromatic color vision with only two spectrally distinct photopigments","volume":"2","author":"Neitz","year":"1999","journal-title":"Nat. Neurosci."},{"key":"ref_61","unstructured":"Neitz, J., Kuchenbecker, J.A., and Neitz, M. (2020). Ophthalmic Lenses for Treating Myopia. (No. 10,571,717), U.S. Patent."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"A208","DOI":"10.1364\/JOSAA.31.00A208","article-title":"Cone-isolating ON-OFF electroretinogram for studying chromatic pathways in the retina","volume":"31","author":"Kuchenbecker","year":"2014","journal-title":"J. Opt. Soc. Am. A"},{"key":"ref_63","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_64","doi-asserted-by":"crossref","first-page":"9710","DOI":"10.1073\/pnas.89.20.9710","article-title":"Selective expression of human X chromosome-linked green opsin genes","volume":"89","author":"Winderickx","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/0896-6273(92)90181-C","article-title":"A locus control region adjacent to the human red and green visual pigment genes","volume":"9","author":"Wang","year":"1992","journal-title":"Neuron"},{"key":"ref_66","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_67","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1475-1313.2010.00735.x","article-title":"Epigenetic control of expression of the human L- and M- pigment genes","volume":"30","author":"Deeb","year":"2010","journal-title":"Ophthalmic Physiol. Opt."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"9802","DOI":"10.1038\/s41598-020-66092-9","article-title":"Cell Atlas of The Human Fovea and Peripheral Retina","volume":"10","author":"Yan","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.cobeha.2019.05.004","article-title":"Photopigment genes, cones, and color update: Disrupting the splicing code causes a diverse array of vision disorders","volume":"30","author":"Neitz","year":"2019","journal-title":"Curr. Opin. Behav. Sci."},{"key":"ref_70","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_71","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_72","first-page":"1593","article-title":"Section 2: Retina and Vitreous","volume":"Volume 2","author":"Albert","year":"2008","journal-title":"Albert and Jakobiec\u2019s Principles and Practice of Ophthalmology"},{"key":"ref_73","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_74","doi-asserted-by":"crossref","first-page":"2396","DOI":"10.1016\/j.visres.2010.09.015","article-title":"Color-deficient cone mosaics associated with Xq28 opsin mutations: A stop codon versus gene deletions","volume":"50","author":"Neitz","year":"2010","journal-title":"Vis. Res."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1364\/JOSAA.17.000499","article-title":"Flicker-photometric electroretinogram estimates of L: M cone photoreceptor ratio in men with photopigment spectra derived from genetics","volume":"17","author":"Carroll","year":"2000","journal-title":"J. Opt. Soc. Am. A"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"9669","DOI":"10.1523\/JNEUROSCI.2414-05.2005","article-title":"Organization of the human trichromatic cone mosaic","volume":"25","author":"Hofer","year":"2005","journal-title":"J. Neurosci."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1167\/8.2.5","article-title":"The L:M cone ratio in males of African descent with normal color vision","volume":"8","author":"McMahon","year":"2008","journal-title":"J. Vis."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/j.preteyeres.2012.06.004","article-title":"The complex interactions of retinal, optical and environmental factors in myopia aetiology","volume":"31","author":"Flitcroft","year":"2012","journal-title":"Prog. Retin Eye Res."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1001\/archopht.122.6.897","article-title":"X-linked high myopia associated with cone dysfunction","volume":"122","author":"Young","year":"2004","journal-title":"Arch. Ophthalmol."},{"key":"ref_80","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_81","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1001\/archophthalmol.2010.270","article-title":"Nonsyndromic high myopia in Chinese family mapped to MYP1: Linkage confirmation and phenotypic characterization","volume":"128","author":"Guo","year":"2010","journal-title":"Arch. Ophthalmol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1101\/gr.119628.110","article-title":"Quantitative evaluation of all hexamers as exonic splicing elements","volume":"21","author":"Ke","year":"2011","journal-title":"Genome Res."},{"key":"ref_83","first-page":"2609","article-title":"Bornholm Eye Disease Arises from a Specific Combination of Amino Acid Changes Encoded by Exon 3 of the L\/M Cone Opsin Gene","volume":"51","author":"McClements","year":"2010","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_84","unstructured":"Rappon, J., Neitz, J., Neitz, M., Young, G., and Chalberg, T.W. (2020). CYPRESS 12-Month Results: Safety and Efficacy from a Pivotal Study of Novel Spectacle Lenses Designed to Reduce Myopia Progression, American Academy of Optometry."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/8\/1180\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:37:03Z","timestamp":1760164623000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/12\/8\/1180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,29]]},"references-count":84,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["genes12081180"],"URL":"https:\/\/doi.org\/10.3390\/genes12081180","relation":{"has-preprint":[{"id-type":"doi","id":"10.20944\/preprints202107.0202.v1","asserted-by":"object"}]},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,29]]}}}