{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T20:17:07Z","timestamp":1780345027151,"version":"3.54.1"},"publisher-location":"Cham","reference-count":48,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783031276804","type":"print"},{"value":"9783031276811","type":"electronic"}],"license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"DOI":"10.1007\/978-3-031-27681-1_28","type":"book-chapter","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T08:04:41Z","timestamp":1689235481000},"page":"189-194","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Enhanced S-cone Syndrome, a Mini-review"],"prefix":"10.1007","author":[{"given":"Yiyi","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacque L.","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austin","family":"Roorda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William S.","family":"Tuten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,14]]},"reference":[{"key":"28_CR1","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.cell.2015.03.023","volume":"161","author":"N A\u00eft-Ali","year":"2015","unstructured":"A\u00eft-Ali N, Fridlich R, Millet-Puel G, et al. Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis. Cell. 2015;161:817\u201332.","journal-title":"Cell"},{"key":"28_CR2","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1097\/ICB.0000000000000891","volume":"15","author":"MJ Ammar","year":"2021","unstructured":"Ammar MJ, Scavelli KT, Uyhazi KE, et al. Enhanced S-cone syndrome: visual function, cross-sectional imaging, and cellular structure with adaptive optics ophthalmoscopy. Retin Cases Brief Rep. 2021;15:694\u2013701.","journal-title":"Retin Cases Brief Rep"},{"key":"28_CR3","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1097\/00006324-199203000-00001","volume":"69","author":"RS Anderson","year":"1992","unstructured":"Anderson RS, Wilkinson MO, Thibos LN. Psychophysical localization of the human visual streak. Optom Vis Sci. 1992;69:171\u20134.","journal-title":"Optom Vis Sci"},{"key":"28_CR4","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1364\/JOSAA.13.000697","volume":"13","author":"RS Anderson","year":"1996","unstructured":"Anderson RS, Evans DW, Thibos LN. Effect of window size on detection acuity and resolution acuity for sinusoidal gratings in central and peripheral vision. J Opt Soc Am A. 1996;13:697.","journal-title":"J Opt Soc Am A"},{"key":"28_CR5","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1016\/S0042-6989(02)00013-5","volume":"42","author":"RS Anderson","year":"2002","unstructured":"Anderson RS, Zlatkova MB, Demirel S. What limits detection and resolution of short-wavelength sinusoidal gratings across the retina? Vis Res. 2002;42:981\u201390.","journal-title":"Vis Res"},{"key":"28_CR6","doi-asserted-by":"crossref","first-page":"172","DOI":"10.3109\/13816810903176765","volume":"30","author":"VL Bonilha","year":"2009","unstructured":"Bonilha VL, Fishman GA, Rayborn ME, et al. Retinal pathology of a patient with Goldmann-Favre syndrome. Ophthalmic Genet. 2009;30:172\u201380.","journal-title":"Ophthalmic Genet"},{"key":"28_CR7","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1523\/JNEUROSCI.3571-04.2005","volume":"25","author":"J Chen","year":"2005","unstructured":"Chen J. The rod photoreceptor-specific nuclear receptor Nr2e3 represses transcription of multiple cone-specific genes. J Neurosci. 2005;25:118\u201329.","journal-title":"J Neurosci"},{"key":"28_CR8","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.visres.2016.03.007","volume":"122","author":"DR Coates","year":"2016","unstructured":"Coates DR, Chung STL. Crowding in the S-cone pathway. Vis Res. 2016;122:81\u201392.","journal-title":"Vis Res"},{"key":"28_CR9","doi-asserted-by":"crossref","first-page":"e11","DOI":"10.1371\/journal.pgen.0010011","volume":"1","author":"JC Corbo","year":"2005","unstructured":"Corbo JC, Cepko CL. A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome. PLoS Genet. 2005;1:e11.","journal-title":"PLoS Genet"},{"key":"28_CR10","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/cne.902920402","volume":"292","author":"CA Curcio","year":"1990","unstructured":"Curcio CA, Sloan KR, Kalina RE, et al. Human photoreceptor topography. J Comp Neurol. 1990;292:497\u2013523.","journal-title":"J Comp Neurol"},{"key":"28_CR11","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1002\/cne.903120411","volume":"312","author":"CA Curcio","year":"1991","unstructured":"Curcio CA, Allen KA, Sloan KR, et al. Distribution and morphology of human cone photoreceptors stained with anti-blue opsin. J Comp Neurol. 1991;312:610\u201324.","journal-title":"J Comp Neurol"},{"key":"28_CR12","doi-asserted-by":"crossref","first-page":"5334","DOI":"10.1523\/JNEUROSCI.13-12-05334.1993","volume":"13","author":"D Dacey","year":"1993","unstructured":"Dacey D. The mosaic of midget ganglion cells in the human retina. J Neurosci. 1993a;13:5334\u201355.","journal-title":"J Neurosci"},{"key":"28_CR13","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1017\/S0952523800010191","volume":"10","author":"DM Dacey","year":"1993","unstructured":"Dacey DM. Morphology of a small-field bistratified ganglion cell type in the macaque and human retina. Vis Neurosci. 1993b;10:1081\u201398.","journal-title":"Vis Neurosci"},{"key":"28_CR14","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/367731a0","volume":"367","author":"DM Dacey","year":"1994","unstructured":"Dacey DM, Lee BB. The \u2018blue-on\u2019 opponent pathway in primate retina originates from a distinct bistratified ganglion cell type. Nature. 1994;367:731\u20135.","journal-title":"Nature"},{"key":"28_CR15","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.oret.2020.07.008","volume":"5","author":"ER de Carvalho","year":"2021","unstructured":"de Carvalho ER, Robson AG, Arno G, et al. Enhanced S-cone syndrome: spectrum of clinical, imaging, electrophysiologic, and genetic findings in a retrospective case series of 56 patients. Ophthalmol Retina. 2021;5:195\u2013214.","journal-title":"Ophthalmol Retina"},{"key":"28_CR16","first-page":"1970","volume":"13","author":"AI Gire","year":"2007","unstructured":"Gire AI, Sullivan LS, Bowne SJ, et al. The Gly56Arg mutation in NR2E3 accounts for 1\u20132% of autosomal dominant retinitis pigmentosa. Mol Vis. 2007;13:1970\u20135.","journal-title":"Mol Vis"},{"key":"28_CR17","doi-asserted-by":"crossref","first-page":"3711","DOI":"10.1016\/0042-6989(96)00073-9","volume":"36","author":"VC Greenstein","year":"1996","unstructured":"Greenstein VC, Zaidi Q, Hood DC, et al. The enhanced S cone syndrome: an analysis of receptoral and post-receptoral changes. Vis Res. 1996;36:3711\u201322.","journal-title":"Vis Res"},{"key":"28_CR18","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1017\/S095252380623027X","volume":"23","author":"NB Haider","year":"2006","unstructured":"Haider NB, Demarco P, Nystuen AM, et al. The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation. Vis Neurosci. 2006;23:917\u201329.","journal-title":"Vis Neurosci"},{"key":"28_CR19","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/72777","volume":"24","author":"NB Haider","year":"2000","unstructured":"Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24:127\u201331.","journal-title":"Nat Genet"},{"key":"28_CR20","first-page":"827","volume":"31","author":"SG Jacobson","year":"1990","unstructured":"Jacobson SG, Marmor MF, Kemp CM, et al. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci. 1990;31:827\u201338.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"28_CR21","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/S0002-9394(14)72379-7","volume":"111","author":"SG Jacobson","year":"1991","unstructured":"Jacobson SG, Roman AJ, Roman MI, et al. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 1991;111:446\u201353.","journal-title":"Am J Ophthalmol"},{"key":"28_CR22","doi-asserted-by":"crossref","first-page":"6523","DOI":"10.1093\/nar\/gkn737","volume":"36","author":"T Langmann","year":"2008","unstructured":"Langmann T, Lai CCL, Weigelt K, et al. CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Res. 2008;36:6523\u201334.","journal-title":"Nucleic Acids Res"},{"key":"28_CR23","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/s41434-020-0134-z","volume":"28","author":"S Li","year":"2020","unstructured":"Li S, Datta S, Brabbit E, et al. Nr2e3 is a genetic modifier that rescues retinal degeneration and promotes homeostasis in multiple models of retinitis pigmentosa. Gene Ther. 2020;28:223\u201341.","journal-title":"Gene Ther"},{"key":"28_CR24","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s10633-020-09787-8","volume":"142","author":"MS Magliyah","year":"2021","unstructured":"Magliyah MS, Alsulaiman SM, Schatz P, et al. Evolution of macular hole in enhanced S-cone syndrome. Doc Ophthalmol. 2021;142:239\u201345.","journal-title":"Doc Ophthalmol"},{"key":"28_CR25","doi-asserted-by":"crossref","unstructured":"Marmor MF. Large rod-like photopic signals in a possible new form of congenital night blindness. Doc Ophthalmol. 1989;71:265\u20139.","DOI":"10.1007\/BF00170975"},{"key":"28_CR26","first-page":"1866","volume":"40","author":"MF Marmor","year":"1999","unstructured":"Marmor MF, Tan F, Sutter EE, et al. Topography of cone electrophysiology in the enhanced S cone syndrome. Invest Ophthalmol Vis Sci. 1999;40:1866\u201373.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"28_CR27","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/S0002-9394(14)76980-6","volume":"110","author":"MF Marmor","year":"1990","unstructured":"Marmor MF, Jacobson SG, Foerster MH, et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 1990;110:124\u201334.","journal-title":"Am J Ophthalmol"},{"key":"28_CR28","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","volume":"130","author":"DL McCulloch","year":"2015","unstructured":"McCulloch DL, Marmor MF, Brigell MG, et al. ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol. 2015;130:1\u201312.","journal-title":"Doc Ophthalmol"},{"key":"28_CR29","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1017\/S095252380118613X","volume":"18","author":"AB Metha","year":"2001","unstructured":"Metha AB, Lennie P. Transmission of spatial information in S-cone pathways. Vis Neurosci. 2001;18:961\u201372.","journal-title":"Vis Neurosci"},{"key":"28_CR30","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1073\/pnas.022533099","volume":"99","author":"AH Milam","year":"2002","unstructured":"Milam AH, Rose L, Cideciyan AV, et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A. 2002;99:473\u20138.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"28_CR31","unstructured":"Kolesnikov A, Murphy DP, Corbo J, et al. Knockout of Nr2e3 protects against photoreceptor degeneration in two mouse models of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2022; 63:3135."},{"key":"28_CR32","doi-asserted-by":"crossref","first-page":"17819","DOI":"10.1073\/pnas.0408183101","volume":"101","author":"KM Nishiguchi","year":"2004","unstructured":"Nishiguchi KM, Friedman JS, Sandberg MA, et al. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A. 2004;101:17819\u201324.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"28_CR33","first-page":"479","volume":"9","author":"GA Peyman","year":"1977","unstructured":"Peyman GA, Fishman GA, Sanders DR, et al. Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. Ann Ophthalmol. 1977;9:479\u201384.","journal-title":"Ann Ophthalmol"},{"key":"28_CR34","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1167\/iovs.13-12897","volume":"55","author":"C Ripamonti","year":"2014","unstructured":"Ripamonti C, Aboshiha J, Henning GB, et al. Vision in observers with enhanced S-cone syndrome: an excess of S-cones but connected mainly to conventional S-cone pathways. Invest Ophthalmol Vis Sci. 2014;55:963.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"28_CR35","doi-asserted-by":"crossref","first-page":"2497","DOI":"10.3390\/ijms20102497","volume":"20","author":"AJ Roman","year":"2019","unstructured":"Roman AJ, Powers CA, Semenov EP, et al. Short-wavelength sensitive cone (S-cone) testing as an outcome measure for NR2E3 clinical treatment trials. Int J Mol Sci. 2019;20:2497.","journal-title":"Int J Mol Sci"},{"key":"28_CR36","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/17383","volume":"397","author":"A Roorda","year":"1999","unstructured":"Roorda A, Williams DR. The arrangement of the three cone classes in the living human eye. Nature. 1999;397:520\u20132.","journal-title":"Nature"},{"key":"28_CR37","first-page":"2934","volume":"51","author":"A Roorda","year":"2010","unstructured":"Roorda A, Sundquist S, Solovyev A, et al. Adaptive optics imaging reveals supernormal cone density in enhanced S-cone syndrome. Invest Ophthalmol Vis Sci. 2010;51:2934.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"28_CR38","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1038\/nn.2465","volume":"13","author":"EA Rossi","year":"2010","unstructured":"Rossi EA, Roorda A. The relationship between visual resolution and cone spacing in the human fovea. Nat Neurosci. 2010;13:156\u20137.","journal-title":"Nat Neurosci"},{"key":"28_CR39","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1001\/archopht.121.9.1316","volume":"121","author":"D Sharon","year":"2003","unstructured":"Sharon D. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121:1316.","journal-title":"Arch Ophthalmol"},{"key":"28_CR40","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1136\/jmg.2006.047340","volume":"44","author":"SK Sikkink","year":"2007","unstructured":"Sikkink SK, Biswas S, Parry NRA, et al. X-linked retinoschisis: an update. J Med Genet. 2007;44:225\u201332.","journal-title":"J Med Genet"},{"key":"28_CR41","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1016\/j.ophtha.2009.10.046","volume":"117","author":"EH Sohn","year":"2010","unstructured":"Sohn EH, Chen FK, Rubin GS, et al. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology. 2010;117:1199\u20131206.e1191.","journal-title":"Ophthalmology"},{"key":"28_CR42","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s10633-015-9487-9","volume":"130","author":"M Sustar","year":"2015","unstructured":"Sustar M, Perov\u0161ek D, Cima I, et al. Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome. Doc Ophthalmol. 2015;130:165\u201377.","journal-title":"Doc Ophthalmol"},{"key":"28_CR43","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1038\/nrn2880","volume":"11","author":"A Swaroop","year":"2010","unstructured":"Swaroop A, Kim D, Forrest D. Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina. Nat Rev Neurosci. 2010;11:563\u201376.","journal-title":"Nat Rev Neurosci"},{"key":"28_CR44","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1038\/370336a0","volume":"370","author":"\u00c1 Sz\u00e9l","year":"1994","unstructured":"Sz\u00e9l \u00c1, Van Veen T, R\u00f6hlich P. Retinal cone differentiation. Nature. 1994;370:336.","journal-title":"Nature"},{"key":"28_CR45","doi-asserted-by":"crossref","first-page":"1524","DOI":"10.1364\/JOSAA.4.001524","volume":"4","author":"LN Thibos","year":"1987","unstructured":"Thibos LN, Cheney FE, Walsh DJ. Retinal limits to the detection and resolution of gratings. J Opt Soc Am A. 1987;4:1524\u20139.","journal-title":"J Opt Soc Am A"},{"key":"28_CR46","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1016\/0042-6989(81)90241-8","volume":"21","author":"DR Williams","year":"1981","unstructured":"Williams DR, MacLeod DI, Hayhoe MM. Foveal tritanopia. Vis Res. 1981;21:1341\u201356.","journal-title":"Vis Res"},{"key":"28_CR47","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1002\/1096-9861(20001002)425:4<545::AID-CNE6>3.0.CO;2-3","volume":"425","author":"M Xiao","year":"2000","unstructured":"Xiao M, Hendrickson A. Spatial and temporal expression of short, long\/medium, or both opsins in human fetal cones. J Comp Neurol. 2000;425:545\u201359.","journal-title":"J Comp Neurol"},{"key":"28_CR48","doi-asserted-by":"crossref","first-page":"1324","DOI":"10.1001\/jamaophthalmol.2013.4349","volume":"131","author":"S Yzer","year":"2013","unstructured":"Yzer S, Barbazetto I, Allikmets R, et al. Expanded clinical spectrum of enhanced S-cone syndrome. JAMA Ophthalmol. 2013;131:1324\u201330.","journal-title":"JAMA Ophthalmol"}],"container-title":["Advances in Experimental Medicine and Biology","Retinal Degenerative Diseases XIX"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-031-27681-1_28","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T09:07:56Z","timestamp":1693559276000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-031-27681-1_28"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"ISBN":["9783031276804","9783031276811"],"references-count":48,"URL":"https:\/\/doi.org\/10.1007\/978-3-031-27681-1_28","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]},"assertion":[{"value":"14 July 2023","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}