Monocromatismo de Conos Azules

1_ES

foto-BCM-lowvision1

External resources

Referencias:

  1. «Patient Registry – Blue Cone Monochromacy».
  2. Alpern M, Lee G B, Maaseidvaag F, Miller SS, (1971). «Colour vision in blue cone ‘monochromacy'». J. Physiol. 212 (1): 211–33. doi:1113/jphysiol.1971.sp009318.
  3. Alpern M, Falls H F, Lee G B, (1960). «The enigma of typical total monochromacy». J. Ophthalmol. 50 (5): 996–1012. doi:10.1016/0002-9394(60)90353-6. PMID13682677.
  4. Andréasson, S; Tornqvist, K (1991). «Electroretinograms in patients with achromatopsia». Acta Ophthal. (Copenh) 69 (6): 711-716. PMID 1789084. https://doi.org/10.1111/j.1755-3768.1991.tb02048.x
  5. Ayyagari R, Kakuk L E, Bingham E L, Szczesny J J, Kemp J, Toda Y, Felius J, Sieving P A, (2000). «Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy» Genet. 107 (1): 75–82. doi:10.1007/s004390000338.
  6. Ayyagari R, Kakuk L E, Coats C L, Bingham EL, Toda Y, Felius J, Sieving P A, (1999).»Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene». Vis. 28: 5-13. PMID 10427103.
  7. Berson EL, Sandberg MA, Rosner B, Sullivan PL, (1983). «Color plates to help identify patients with blue cone monochromatism». J. Ophthalmol. 95 (6): 741–7. doi:10.1016/0002-9394(83)90058-2. PMID6602551.
  8. Blackwell H R, Blackwell O M, (1961). «Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia». Vision Res. 1 (1–2): 62–107. doi:1016/0042-6989(61)90022-0.
  9. Buena-Atienza E, Nasser F, Kohl S, Wissinger B, (2018) “A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: A case report.” BMC Med. Genet. 19, 107 (2018). – DOI: 1186/s12881-018-0623-8 
  10. Carroll J, et al. (2010) “Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic” Vision Res. 50, 1989–1999 (2010). – doi: 1016/j.visres.2010.07.009
  11. Cideciyan A V, Hufnagel R B, Carroll J, Sumaroka A, Luo X, Schwartz S B, Dubra A, Land M, Michaelides M, Gardner J C, Hardcastle A J, Moore A T, Sisk R A, Ahmed Z M, Kohl S, Wissinger B, Jacobson S G, (2013) “Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy”. Hum Gene Ther 2013; 24: 993-1006. – DOI: 1089/hum.2013.153
  12. Cideciyan A V, Roman A J, Jacobson S G, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S, (2016) “Developing an outcome measure with high luminance for optogenetics treatment of severe retinal degenerations and for gene therapy of cone diseases”. Invest Ophthalmol Vis Sci. 57(7):3211-21. DOI: 1167/iovs.16-19586 
  13. Crognale M A, Fry M, Highsmith J, Haegerstrom-Portnoy G, Neitz M, Neitz J, Webster M A, (2004). «Characterization of a novel form of X-linked incomplete achromatopsia». Neurosci. 21 (3): 197-203. DOI: 10.1017/s0952523804213384 
  14. Deeb S S, (2005). «The molecular basis of variation in human color vision». Genet. 67 (5): 369-377. DOI: 10.1111/j.1399-0004.2004.00343.x 
  15. Deng WT, Li J, Zhu P, Chiodo V A, Smith W C, Freedman B, Baehr W, Pang J, Hauswirth W W.  (2018) ‘Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy’. Molecular Vision (2018) 24, 17-28. PMID: 29386880.
  16. Deng WT, Li J, Zhu P, Freedman B, Smith W C, Baehr W, Hauswirth W W, (2019) “Rescue of M-cone Function in Aged Opn1mw−/− Mice, a Model for Late-Stage Blue Cone Monochromacy”. Investigative Ophthalmology & Visual Science August (2019) Vol.60, 3644-3651. PMID: 31469404.
  17. Buena-Atienza E, Rüther K, Baumann B et al. (2016) “De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy”. Sci Rep 6, 28253 (2016). DOI: 10.1038/srep28253.
  18. Emily R. Sechrest, Kathryn Chmelik, Wendy D. Tan, Wen-Tao Deng, (2023) “Blue cone monochromacy and gene therapy” Vision Research,Volume 208,2023,108221,ISSN 0042-6989, – DOI: 1016/j.visres.2023.108221
  19. Gardner J C, Liew G, Quan Y H, Ermetal B, Ueyama H, Davidson A E, Schwarz N, Kanuga N, Chana R, Maher E, Webster A R, Holder G E, Robson A G, Cheetham, M E, Liebelt J, Ruddle J B, Moore A T, Michaelides M, Hardcastle A J, (2014). «A three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants». Mutat. 35 (11): 1354-1362. DOI: 10.1002/humu.22679 
  20. Gardner J C, Webb T R, Kanuga N, Robson A G, Holder G E, Stockman A, Ripamonti C, Ebenezer N D, Ogun O, Devery S, Wright G A, Maher E R, Cheetham M E, Moore A T, Michaelides M, Hardcastle A J, (2010). «X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins». J. Hum. Genet. 87 (1): 26–39. doi:10.1016/j.ajhg.2010.05.019.
  21. Gardner J C, Michaelides M, Holder G E, Kanuga N, Webb T R, Mollon J D, Moore A T, Hardcastle A J, (2009). «Blue cone monochromacy: Causative mutations and associated phenotypes». Molecular Vision. 15: 876–884. PMC2676201. PMID 19421413.
  22. Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. (2022) “Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.” NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9.
  23. Hanna K, Nieves J, Dowd C, Bender K O, Sharma P, Singh B, Renz M, Ver Hoeve J N, Cepeda D, Gelfman C M, Riley B E, Grishanin R N, (2023) “Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy”. Mol Ther. 2023 Jul 5;31(7):2014-2027. doi: 10.1016/j.ymthe.2023.03.011.
  24. Huddart, J (1777). «An account of persons who could not distinguish colours». Trans. R. Soc. 67: 260. doi:10.1098/rstl.1777.0015. S2CID186212155.
  25. Katagiri S., et al. , (2018) “Genotype determination of the OPN1LW/OPN1MW genes: Novel disease-causing mechanisms in Japanese patients with blue cone monochromacy”. Rep. 8, 11507 (2018). DOI: 10.1038/s41598-018-29891-9 
  26. Keller U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster M H, (2004). «Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster». Graefes Arch. Clin. Exp. Ophthalmol. 242 (9): 729-735. DOI: 1007/s00417-004-0921-z .
  27. Kohl S, Hamel C P, (2011). «Clinical utility gene card for: blue cone monochromatism». Eur. J. Hum. 19 (6): 732. doi:10.1038/ejhg.2010.232.
  28. Ladekjaer-Mikkelsen, A S; Rosenberg, T; Jørgensen, A L (1996). «A new mechanism in blue cone monochromatism». Genet. 98 (4): 403–408. doi:10.1007/s004390050229.
  29. Lewis R A, Holcomb J D, Bromley W C, Wilson M C, Roderick T H, Hejtmancik J F, (1987). «Mapping X-linked ophthalmic diseases: III. Provisional assignment of the locus for blue cone monochromacy to Xq28». Ophthalmol. 105 (8): 1055-1059. DOI: 10.1001/archopht.1987.01060080057028 
  30. Luo X, Cideciyan A V, Iannaccone A, Roman A J, Ditta L C, Jennings B J, Yatsenko S, Sheplock R, Sumaroka A, Swider M, Schwartz S B, Wissinger B, Kohl S, Jacobson S G, (2015). «Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials». PLOS ONE. 10 (4): e0125700 doi:1371/journal.pone.0125700.
  31. Mancuso K, Hauswirth W W, Li Q, Connor T B, Kuchenbecker J A, Mauck M C, Neitz J, Neitz M, (2009) “Gene therapy for red-green colour blindness in adult primates”. Nature (2009) 461:784-787. PMID: 19759534.
  32. Mancuso K, Mauck M C, Kuchenbecker J A, Neitz M, and Neitz J, (2010) “A Multi-Stage Color Model Revisited: Implications for a Gene Therapy Cure for Red-Green Colorblindness’2 (2010) R.E. Anderson et al. (eds.), Retinal Degenerative Diseases, Advances in Experimental Medicine and Biology 664. PMID: 20238067.
  33. Mascio A A, Roman A J, Cideciyan A V, Sheplock R, Wu V, Garafalo A V, Sumaroka A, Pirkle S, Kohl S, Wissinger B, Jacobson S G and Barbur J L, (2023) “Color vision in blue cone monochromacy: outcome measures for a clinical trial” Transl Vis Sci Techno 2023 Jan 3;12(1):25 DOI: 1167/tvst.12.1.25 
  34. Michaelides M, Johnson S, Simunovic M P, Bradshaw K, Holder G, Mollon J D, Moore A T, Hunt D M, (2005). «Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals». Eye (Lond). 19 (1): 2–10. doi:1038/sj.eye.6701391. PMID15094734.
  35. Mizrahi-Meissonnier L, Merin S, Banin E, Sharon D, (2010). «Variable Retinal Phenotypes caused by mutations in the X-linked phopigment gene array». Ophthal. Vis. Sci. 51 (8): 3884-92. PMID 20220053.
  36. Nathans, J (1987). «Molecular biology of visual pigments». Rev. Neurosci 10: 163-194. PMID 3551758.
  37. Nathans, J (1999). «The evolution and physiology of human color vision: insights from molecular genetic studies of visual pigments». 24 (2): 299-312. PMID 10571225
  38. Nathans, J; Davenport, C M; Maumenee, I H; Lewis, R A; Hejtmancik, J F; Litt, M; Lovrien, E; Weleber, R; Bachynski, B; Zwas, F; Klingaman, R; Fishman, G (1989). «Molecular genetics of human blue cone monochromacy». Science. 245 (4920): 831–838. doi:1126/science.2788922.
  39. Nathans J, Maumenee I H, Zrenner E, Sadowski B, Sharpe L T, Lewis R A, Hansen E, Rosenberg T, Schwartz M, Heckenlively J R, Trabulsi E, Klingaman R, Bech-Hansen N T, LaRoche G R, Pagon R A, Murphey W H, Weleber R G, (1993). «Genetic heterogeneity among blue cone monochromats». Am. J. Hum. Genet. 53 (5): 987–1000. PMC1682301. PMID 8213841.
  40. Nathans J, Piantanida T P, Eddy R L, Shows T B, Hogness D S, (1986). «Molecular genetics of inherited variation in human color vision». Science 232 (4747): 203-210. PMID 3485310.
  41. Nathans J, Thomas D, Hogness D S, (1986). «Molecular genetics of human color vision: the genes encoding blue, green, and red pigments». Science 232 (4747): 193-202. PMID 2937147
  42. Neitz J, Neitz M, (2011). «The genetics of normal and defective color vision». Vision Res. 51 (7): 633–651. doi:1016/j.visres.2010.12.002.
  43. Neitz M, (2000). «Molecular Genetics of Color Vision and Color Vision Defects». Archives of Ophthalmology. 118 (5): 691–700. doi:1001/archopht.118.5.691.
  44. Pinckers A, (1992) «Berson test for blue cone monochromatism». Ophthalmol. 16 (3):185-186. PMID 1452423.
  45. Reitner A, Sharpe L T, Zrenner E, (1991). «Is colour vision possible with only rods and Blue sensitive cones?». 352 (6338): 798–800. Bibcode:1991Natur.352..798R. doi:10.1038/352798a0. PMID1881435. S2CID 4328439.
  46. Reyniers E, et al. , (1995) “Gene conversion between red and defective green opsin gene in blue cone monochromacy”. Genomics 29, 323–328 (1995). – PubMed 
  47. Semenov E P, Sheplock R, Roman A J, McGuigan D B, Swider M, Cideciyan A V, Jacobson S G, (2022) “Reading performance in blue cone monochromacy: defining an outcome measure for a clinical trial.” Transl Vis Sci Technol. 2020 Dec 8;9(13):13. – doi: 1167/tvst.9.13.13
  48. Sloan L L, Newhall S M, (1942). «Comparison of cases of atypical and typical achromatopsia». American Journal of Ophthalmology. 25 (8): 945–961. doi:1016/S0002-9394(42)90594-4.
  49. Smallwood P M, Wang Y, Nathans J, (2002) “Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes”. Natl. Acad. Sci. U.S.A. 99, 1008–1011 (2002). – PMC – PubMed 
  50. Spivey B E, (1965) «The X-linked recessive inheritance of atypical monochromatism». Ophthalmol. 74 (3): 327–333. doi:10.1001/archopht.1965.00970040329007.
  51. Sumaroka A, Cideciyan AV, Sheplock R, Wu V, Kohl S, Wissinger B, Jacobson SG, (2020) “Foveal therapy in blue cone monochromacy: predictions of visual potential from artificial intelligence”. Front Neurosci. 2020 Aug 3;14:800. doi: 10.3389/fnins.2020.00800.
  52. Sumaroka A, Garafalo AV, Cideciyan AV, Charng J, Roman AJ, Choi W, Saxena S, Aksianiuk V, Kohl S, Wissinger B, Jacobson SG. (2018) “Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations”. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5762-72. doi:https://doi.org/10.1167/iovs.18-25280
  53. Wang C., et al. , Novel OPN1LW/OPN1MW deletion mutations in 2 Japanese families with blue cone monochromacy. Genome Var. 3, 16011 (2016). – PMC – PubMed 
  54. Wang Y., et al. , A locus control region adjacent to the human red and green visual pigment genes. Neuron 9, 429–440 (1992). – PubMed 
  55. Wang, Y; Macke, J P; Merbs, S L; Zack, D J; Klaunberg, B; Bennett, J; Gearhart, J; Nathans, J (1992). «A locus control region adjacent to the human red and green visual pigment genes». 9 (3): 429-440. PMID 1524826.
  56. Weale, RA (1953). «Cone Monochromatism». The Journal of Physiology. 121 (3): 548–569. doi:1113/jphysiol.1953.sp004964.
  57. Winderickx J, Sanocki E, Lindsey DT, Teller DY, Motulsky AG, Deeb SS, (1992). «Defective colour vision associated with a missense mutation in the human green visual pigment gene». Genet. 1 (4): 251–6. doi:10.1038/ng0792-251.
  58. Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell L, Català Mora J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S, (2022) “The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy”. Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119.
  59. Xie B, Nakanishi S, Guo Q, Xia F, Yan G, An J, Li L, Serikawa T, Kuramoto T, Zhang Z. (2010) ”A novel middle-wavelength opsin (M-opsin) null-mutation in the retinal cone dysfunction rat”. Eye Res. (2010) 91 (1):26-33. PMID: 20371244.
  60. Yatsenko S. A., et al. , “High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy”. Genet. 89, 82–87 (2016). – PMC – PubMed 
  61. Zhang Z, Pang J, Xia F, Guo Q, Li L, An J, Zhang L, Hauswirth W W, Yang S, Li Z. “AAV-mediated Gene Therapy Restores Cone Function In A Rat With An M-cone Opsin Deficiency. A Model For Blue Cone Monochromacy”. PMID: 29386880.
  62. Zhang Y, Deng W T, Du W, Zhu P, Li J, Xu F, Sun J, Gerstner C D, Baehr W, Boye Sanford L, Zhao C, Hauswirth W W, Pang J, (2017) “Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy”. Sci Rep 7, 6690 (2017). https://doi.org/10.1038/s41598-017-06982-7

 

1_ES

foto-BCM-lowvision1

External resources

Referencias:

  1. «Patient Registry – Blue Cone Monochromacy».
  2. Alpern M, Lee G B, Maaseidvaag F, Miller SS, (1971). «Colour vision in blue cone ‘monochromacy'». J. Physiol. 212 (1): 211–33. doi:1113/jphysiol.1971.sp009318.
  3. Alpern M, Falls H F, Lee G B, (1960). «The enigma of typical total monochromacy». J. Ophthalmol. 50 (5): 996–1012. doi:10.1016/0002-9394(60)90353-6. PMID13682677.
  4. Andréasson, S; Tornqvist, K (1991). «Electroretinograms in patients with achromatopsia». Acta Ophthal. (Copenh) 69 (6): 711-716. PMID 1789084. https://doi.org/10.1111/j.1755-3768.1991.tb02048.x
  5. Ayyagari R, Kakuk L E, Bingham E L, Szczesny J J, Kemp J, Toda Y, Felius J, Sieving P A, (2000). «Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy» Genet. 107 (1): 75–82. doi:10.1007/s004390000338.
  6. Ayyagari R, Kakuk L E, Coats C L, Bingham EL, Toda Y, Felius J, Sieving P A, (1999).»Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene». Vis. 28: 5-13. PMID 10427103.
  7. Berson EL, Sandberg MA, Rosner B, Sullivan PL, (1983). «Color plates to help identify patients with blue cone monochromatism». J. Ophthalmol. 95 (6): 741–7. doi:10.1016/0002-9394(83)90058-2. PMID6602551.
  8. Blackwell H R, Blackwell O M, (1961). «Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia». Vision Res. 1 (1–2): 62–107. doi:1016/0042-6989(61)90022-0.
  9. Buena-Atienza E, Nasser F, Kohl S, Wissinger B, (2018) “A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: A case report.” BMC Med. Genet. 19, 107 (2018). – DOI: 1186/s12881-018-0623-8 
  10. Carroll J, et al. (2010) “Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic” Vision Res. 50, 1989–1999 (2010). – doi: 1016/j.visres.2010.07.009
  11. Cideciyan A V, Hufnagel R B, Carroll J, Sumaroka A, Luo X, Schwartz S B, Dubra A, Land M, Michaelides M, Gardner J C, Hardcastle A J, Moore A T, Sisk R A, Ahmed Z M, Kohl S, Wissinger B, Jacobson S G, (2013) “Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy”. Hum Gene Ther 2013; 24: 993-1006. – DOI: 1089/hum.2013.153
  12. Cideciyan A V, Roman A J, Jacobson S G, Yan B, Pascolini M, Charng J, Pajaro S, Nirenberg S, (2016) “Developing an outcome measure with high luminance for optogenetics treatment of severe retinal degenerations and for gene therapy of cone diseases”. Invest Ophthalmol Vis Sci. 57(7):3211-21. DOI: 1167/iovs.16-19586 
  13. Crognale M A, Fry M, Highsmith J, Haegerstrom-Portnoy G, Neitz M, Neitz J, Webster M A, (2004). «Characterization of a novel form of X-linked incomplete achromatopsia». Neurosci. 21 (3): 197-203. DOI: 10.1017/s0952523804213384 
  14. Deeb S S, (2005). «The molecular basis of variation in human color vision». Genet. 67 (5): 369-377. DOI: 10.1111/j.1399-0004.2004.00343.x 
  15. Deng WT, Li J, Zhu P, Chiodo V A, Smith W C, Freedman B, Baehr W, Pang J, Hauswirth W W.  (2018) ‘Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy’. Molecular Vision (2018) 24, 17-28. PMID: 29386880.
  16. Deng WT, Li J, Zhu P, Freedman B, Smith W C, Baehr W, Hauswirth W W, (2019) “Rescue of M-cone Function in Aged Opn1mw−/− Mice, a Model for Late-Stage Blue Cone Monochromacy”. Investigative Ophthalmology & Visual Science August (2019) Vol.60, 3644-3651. PMID: 31469404.
  17. Buena-Atienza E, Rüther K, Baumann B et al. (2016) “De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy”. Sci Rep 6, 28253 (2016). DOI: 10.1038/srep28253.
  18. Emily R. Sechrest, Kathryn Chmelik, Wendy D. Tan, Wen-Tao Deng, (2023) “Blue cone monochromacy and gene therapy” Vision Research,Volume 208,2023,108221,ISSN 0042-6989, – DOI: 1016/j.visres.2023.108221
  19. Gardner J C, Liew G, Quan Y H, Ermetal B, Ueyama H, Davidson A E, Schwarz N, Kanuga N, Chana R, Maher E, Webster A R, Holder G E, Robson A G, Cheetham, M E, Liebelt J, Ruddle J B, Moore A T, Michaelides M, Hardcastle A J, (2014). «A three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants». Mutat. 35 (11): 1354-1362. DOI: 10.1002/humu.22679 
  20. Gardner J C, Webb T R, Kanuga N, Robson A G, Holder G E, Stockman A, Ripamonti C, Ebenezer N D, Ogun O, Devery S, Wright G A, Maher E R, Cheetham M E, Moore A T, Michaelides M, Hardcastle A J, (2010). «X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins». J. Hum. Genet. 87 (1): 26–39. doi:10.1016/j.ajhg.2010.05.019.
  21. Gardner J C, Michaelides M, Holder G E, Kanuga N, Webb T R, Mollon J D, Moore A T, Hardcastle A J, (2009). «Blue cone monochromacy: Causative mutations and associated phenotypes». Molecular Vision. 15: 876–884. PMC2676201. PMID 19421413.
  22. Haer-Wigman L, den Ouden A, van Genderen MM, Kroes HY, Verheij J, Smailhodzic D, Hoekstra AS, Vijzelaar R, Blom J, Derks R, Tjon-Pon-Fong M, Yntema HG, Nelen MR, Vissers LELM, Lugtenberg D, Neveling K. (2022) “Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.” NPJ Genom Med. 2022 Nov 9;7(1):65. doi: 10.1038/s41525-022-00334-9.
  23. Hanna K, Nieves J, Dowd C, Bender K O, Sharma P, Singh B, Renz M, Ver Hoeve J N, Cepeda D, Gelfman C M, Riley B E, Grishanin R N, (2023) “Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy”. Mol Ther. 2023 Jul 5;31(7):2014-2027. doi: 10.1016/j.ymthe.2023.03.011.
  24. Huddart, J (1777). «An account of persons who could not distinguish colours». Trans. R. Soc. 67: 260. doi:10.1098/rstl.1777.0015. S2CID186212155.
  25. Katagiri S., et al. , (2018) “Genotype determination of the OPN1LW/OPN1MW genes: Novel disease-causing mechanisms in Japanese patients with blue cone monochromacy”. Rep. 8, 11507 (2018). DOI: 10.1038/s41598-018-29891-9 
  26. Keller U, Wissinger B, Tippmann S, Kohl S, Kraus H, Foerster M H, (2004). «Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster». Graefes Arch. Clin. Exp. Ophthalmol. 242 (9): 729-735. DOI: 1007/s00417-004-0921-z .
  27. Kohl S, Hamel C P, (2011). «Clinical utility gene card for: blue cone monochromatism». Eur. J. Hum. 19 (6): 732. doi:10.1038/ejhg.2010.232.
  28. Ladekjaer-Mikkelsen, A S; Rosenberg, T; Jørgensen, A L (1996). «A new mechanism in blue cone monochromatism». Genet. 98 (4): 403–408. doi:10.1007/s004390050229.
  29. Lewis R A, Holcomb J D, Bromley W C, Wilson M C, Roderick T H, Hejtmancik J F, (1987). «Mapping X-linked ophthalmic diseases: III. Provisional assignment of the locus for blue cone monochromacy to Xq28». Ophthalmol. 105 (8): 1055-1059. DOI: 10.1001/archopht.1987.01060080057028 
  30. Luo X, Cideciyan A V, Iannaccone A, Roman A J, Ditta L C, Jennings B J, Yatsenko S, Sheplock R, Sumaroka A, Swider M, Schwartz S B, Wissinger B, Kohl S, Jacobson S G, (2015). «Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials». PLOS ONE. 10 (4): e0125700 doi:1371/journal.pone.0125700.
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