pub – Blue Cone Monochromacy

Ayyagari, R., Kakuk, L. E., Bingham, E. L., Szczesny, J. J., Kemp, J., Toda, Y., Felius, J., Sieving, P. A.

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum. Genet. 107: 75-82, 2000.

Deeb, S.S. Molecular Genetics of colour vision deficiencies. Clinical and Experimental Optometry 87.4 – 5 July 2004

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. and Hardcastle, A. J. X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins. The American Journal of Human Genetics 87, 26–39, July 9, 2010

Gardner, J. C., Michaelides, M., Holder, G. E., Kanuga, N., Webb, T. R., Mollon, J. D., Moore, A. T., Hardcastle, A. J. Blue cone monochromacy: causative mutations and associated phenotypes. Molec. Vis. 15: 876-884, 2009.

Ladekjaer-Mikkelsen, A.-S., Rosenberg, T., Jorgensen, A. L. A new mechanism in blue cone monochromatism. Hum. Genet. 98: 403-408, 1996.

Lewis, R. A., Holcomb, J. D., Bromley, W. C., Wilson, M. C., Roderick, T. H., Hejtmancik, J. F. Mapping X-linked ophthalmic diseases: III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch. Ophthal. 105: 1055-1059, 1987. [PubMed: 2888453, related citations] [Full Text: HighWire Press, Pubget]

Lewis, R. A., Nathans, J., Holcomb, J. D., Bromley, W. C., Roderick, T. H., Wilson, M. C., Hejtmancik, J. F. Blue cone monochromacy: assignment of the locus to Xq28 and evidence for its molecular rearrangement. (Abstract) Am. J. Hum. Genet. 41: A102 only, 1987.

Michaelides, M., Johnson, S., Simunovic, M. P., Bradshaw, K., Holder, G., Mollon, J. D., Moore, A. T., Hunt, D. M. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. Eye 19: 2-10, 2005.

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. Molecular genetics of human blue cone monochromacy. Science 245: 831-838, 1989.

Nathans, J., Maumenee, I. H., Zrenner, E., Sadowski, B., Sharpe, L. T., Lewis, R. A., Hansen, E., Rosenberg, T., Schwartz, M., Heckenlively, J. R., Traboulsi, E., Klingaman, R., Bech-Hansen, N. T., LaRoche, G. R., Pagon, R. A., Murphey, W. H., Weleber, R. G. Genetic heterogeneity among blue-cone monochromats. Am. J. Hum. Genet. 53: 987-1000, 1993.

Nathans, J., Thomas D., Hogness D.S. Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and

Red Pigments

Neitz J., Neitz M. Genetics of normal and defective color vision. 2011 Review. Vision Research.

Reitner, A., Sharpe, L. T., Zrenner, E. Is colour vision possible with only rods and blue-sensitive cones? Nature 352: 798-800, 1991. [PubMed: 1881435, related citations] [Full Text: Pubget]

Reyniers, E., Van Thienen, M.-N., Meire, F., De Boulle, K., Devries, K., Kestelijn, P., Willems, P. J. Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 29: 323-328, 1995. [PubMed: 8666378, related citations] [Full Text: Elsevier Science, Pubget]

Wang, Y., Macke, J. P., Merbs, S. L., Zack, D. J., Klaunberg, B., Bennett, J., Gearhart, J., Nathans, J. A locus control region adjacent to the human red and green visual pigment genes. Neuron 9: 429-440, 1992. [PubMed: 1524826, related citations] [Full Text: Elsevier Science, Pubget]

Eye Retina and Cones:

Debarshi Mustaﬁ, Andreas H. Engel, Krzysztof Palczewski Structure of Cone Photoreceptors – Review. Progress in Retinal and Eye Research 28 (2009) 289–302.

Jay Neitz, Joseph Carroll and Maureen Neitz Color Vision. Optics & Photonics News Jan-2001.

BCM Animal Model

Xie B, Nakanishi S, Guo Q, Xia F, Yan G, An J, Li L, Serikawa T, Kuramoto T, Zhang Z. A novel middle-wavelength opsin (M-opsin) null-mutation in the retinal cone dysfunction rat. Exp Eye Res. 91(1):26-33, 2010.

BCM Gene Therapy on animal model

Mancuso K, Hauswirth WW, Li Q, Connor TB, Kuchenbecker JA, Mauck MC, Neitz J, Neitz M: Gene therapy for red-green colour blindness in adult primates. Nature 2009;461:784-787.

Mancuso K, Hendrickson AE, Connor TB, Jr., Mauck MC, Kinsella JJ, Hauswirth WW, Neitz J, Neitz M: Recombinant adeno-associated virus targets passenger gene expression to cones in primate retina. J Opt Soc Am A Opt Image Sci Vis 2007;24:1411-1416.

Human BCM Gene Therapy:

Katherine Mancuso, Matthew C. Mauck, James A. Kuchenbecker, Maureen Neitz, and Jay Neitz A Multi-Stage Color Model Revisited: Implications for a Gene Therapy Cure for Red-Green Colorblindness. 2010 R.E. Anderson et al. (eds.), Retinal Degenerative Diseases, Advances in Experimental Medicine and Biology 664.

Achromatopsia gene therapy on animal model

Gene replacement Therapy restores retinal cone function in 2 canine models of CNGB3 achromatopsia.

András M. Komáromy, John J. Alexander, Jessica S. Rowlan, Monique M. Garcia, Vince A. Chiodo, Asli Kaya, Jacqueline C. Tanaka, Gregory M. Acland, William W. Hauswirth and Gustavo D. Aguirre Gene therapy rescues cone function in congenital achromatopsia Apr. 8, 2010.

rAAV-mediated Gene Therapy of the GNAT2 mutant mouse.

Alexander JJ, Umino Y, Everhart D, Chang B, Min SH, Li Q, Timmers AM, Hawes NL, Pang JJ, Barlow RB, Hauswirth WW: Restoration of cone vision in a mouse model of achromatopsia. Nat Med 2007;13:685-687.

Publications:

Debarshi Mustaﬁ, Andreas H. Engel, Krzysztof Palczewski Structure of Cone Photoreceptors – Review. Progress in Retinal and Eye Research 28 (2009) 289–302.

Jay Neitz, Joseph Carroll and Maureen Neitz Color Vision. Optics & Photonics News Jan-2001.

Webvision – The Organization of the Retina and Visual System

Here you have a collection of research studies about BCM mutations:

Ayyagari, R., Kakuk, L. E., Bingham, E. L., Szczesny, J. J., Kemp, J., Toda, Y., Felius, J., Sieving, P. A.

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy. Hum. Genet. 107: 75-82, 2000.

Deeb, S.S. Molecular Genetics of colour vision deficiencies. Clinical and Experimental Optometry 87.4 – 5 July 2004

Kazmi, M.A., Sakmar, T. P. and Ostrer, H. Mutation of a conserved Cysteine in the X-Linked cone Opsins causes color vision deficiencies by disrupting protein folding and stability 1074 Investigative Ophthalmology & Visual Science, May 1997, Vol. 38, No. 6.

Kellner, U., Wissinger, B., Tippmann, S., Kohl, S., Kraus, H., Foerster, M.H. Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster. Graefes Arch Clin Exp Ophthalmol 2004;242:729-735.

Ladekjaer-Mikkelsen, A.-S., Rosenberg, T., Jorgensen, A. L. A new mechanism in blue cone monochromatism. Hum. Genet. 98: 403-408, 1996.

Nathans, J., Thomas D., Hogness D.S. Molecular Genetics of Human Color Vision: The Genes Encoding Blue, Green, and

Red Pigments

Neitz J., Neitz M. Genetics of normal and defective color vision. 2011 Review. Vision Research.

Reitner, A., Sharpe, L. T., Zrenner, E. Is colour vision possible with only rods and blue-sensitive cones? Nature 352: 798-800, 1991.

Gene Therapy

Barthelmes, D., Sutter, F. K., Kurz-Levin, M. M., Bosch, M. M., Helbig, H., Niemeyer, G., Fleischhauer, J. C. Quantitative analysis of OCT characteristics in patients with Achromatopsia and Blue Cone Monochromacy Investigative Ophthalmology & Visual Science, March 2006, Vol. 47, No. 3.

Michaelides, M., Johnson, S., Simunovic, M. P., Bradshaw, K., Holder, G., Mollon, J. D., Moore, A.T., Hunt, D. M. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. Eye (Lond) 2005;19:2-10.

Calkins, D.J. Seeing with S cones. Prog Retin Eye Res 2001;20:255-287.

Ayyagari, R., Kakuk, L. E., Coats, C. L., Bingham, E. L., Toda, Y., Felius, J., Sieving, P.A. Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. Mol. Vis. 1999;5:13.

Fleischman, J. A., O’Donnell, F. E. Jr. Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Arch Ophthalmol 1981;99:468-472.