Colour vision deficiency

Eye

Volumn 24, Issue 5, 2010, Pages 747-755

  Simunovic, M P ^a  

^a SYDNEY EYE HOSPITAL   (Australia)

Author keywords

Achromatopsia; Colour vision deficiency; Colour blindness; Cone dystrophy

Indexed keywords

COLOR VISION DEFECT; COLOR VISION TEST; HUMAN; PATHOPHYSIOLOGY; PATIENT COUNSELING; PREVALENCE; RETINA DYSTROPHY; REVIEW; VISUAL AID;

EID: 77952473007     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2009.251     Document Type: Review

References (70)

1. Dartnall HJ, Bowmaker JK, Mollon JD. Human visual pigments: microspectrophotometric results from the eyes of seven persons. Proc R Soc Lond B Biol Sci 1983;220(1218):115-130.
2. Solomon SG, Lennie P. The machinery of colour vision. Nat Rev Neurosci 2007;8(4):276-286.
3. Mollon JD. Color vision: opsins and options. Proc Natl Acad Sci USA 1999;96(9):4743-4745.
4. Hendry SH, Reid RC. The koniocellular pathway in primate vision. Annu Rev Neurosci 2000;23: 127-153.
5. Bosten JM, Robinson JD, Jordan G, Mollon JD. Multidimensional scaling reveals a color dimension unique to 'color-deficient' observers. Curr Biol 2005;15 (23):R950-R952.
6. Mollon JD. '...aus dreyerley Arten von Membranen oder Molekü len': George Palmer's legacy. In: Cavonius CR (ed). Colour Vision Deficiencies XIII. Kluwer: Dordecht, 1997.
7. Barbur JL, Rodriguez-Carmona M, Evans S, Milburn N. Civil Aviation Authority Report: Minimum Colour Vision Requirements for Professional Flight Crew. The stationery office: London, 2009.
8. Carroll J, Neitz M, Hofer H, Neitz J, Williams DR. Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindness. Proc Natl Acad Sci USA 2004;101(22):8461-8466.
9. Baraas RC, Carroll J, Gunther KL, Chung M, Williams DR, Foster DH et al. Adaptive optics retinal imaging reveals S-cone dystrophy in tritan color-vision deficiency. J Opt Soc Am A Opt Image Sci Vis 2007;24(5):1438-1447.
10. Michaelides M, Johnson S, Bradshaw K, Holder GE, Simunovic MP, Mollon JD et al. X-linked cone dysfunction syndrome with myopia and protanopia. Ophthalmology 2005;112(8):1448-1454.
11. Simunovic MP, Moore AT. The cone dystrophies. Eye 1998;12 (Pt 3 b):553-565.
12. Pokorny J, Smith VC, Pinckers AJ, Cozijnsen M. Classification of complete and incomplete autosomal recessive achromatopsia. Graefes Arch Clin Exp Ophthalmol 1982;219(3):121-130.
13. Smith VC, Pokorny J, Delleman JW, Cozijnsen M, Houtman WA, Went LN. X-linked incomplete achromatopsia with more than one class of functional cones. Invest Ophthalmol Vis Sci 1983;24(4):451-457.
14. Weale RA. Cone-monochromatism. J Physiol 1953;121(3):548-569.
15. Gibson IM. Visual mechanisms in a cone-monochromat. J Physiol 1962;161: 10-11.
16. Ikeda H, Ripps H. The electroretinogram of a conemonochromat. Arch Ophthalmol 1966;75(4):513-517.
17. Alpern M. What is it that confines in a world without color? Invest Ophthalmol 1974;13(9):648-674.
18. Pitt FHG. Monochromatism. Nature 1944;154: 466-468.
19. Simunovic MP. The Cone Dystrophies. University of Cambridge: Cambridge, 1999; v. PhD.
20. Delpero WT, O'Neill H, Casson E, Hovis J. Aviation-relevant epidemiology of color vision deficiency. Aviat Space Environ Med 2005;76(2):127-133.
21. Nathans J, Thomas D, Hogness DS. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 1986;232(4747):193-202.
22. Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS. Molecular genetics of inherited variation in human color vision. Science 1986;232(4747):203-210.
23. Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS. The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. Hum Mol Genet 2002;11(1):23-32.
24. Ueyama H, Kuwayama S, Imai H, Tanabe S, Oda S, Nishida Y et al. Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies. Biochem Biophys Res Commun 2002;294(2):205-209.
25. Ueyama H, Kuwayama S, Imai H, Oda S, Nishida Y, Tanabe S et al. Analysis of L-cone/M-cone visual pigment gene arrays in Japanese males with protan color-vision deficiency. Vision Res 2004;44(19):2241-2252.
26. Ueyama H, Li YH, Fu GL, Lertrit P, Atchaneeyasakul LO, Oda S et al. An A-71C substitution in a green gene at the second position in the red/green visual-pigment gene array is associated with deutan color-vision deficiency. Proc Natl Acad Sci USA 2003;100(6):3357-3362.
27. Reichel E, Bruce AM, Sandberg MA, Berson EL. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am J Ophthalmol 1989;108(5):540-547.
28. Neitz M, Neitz J, Jacobs GH. Spectral tuning of pigments underlying red-green color vision. Science 1991;252(5008):971-974.
29. Merbs SL, Nathans J. Role of hydroxyl-bearing amino acids in differentially tuning the absorption spectra of the human red and green cone pigments. Photochem Photobiol 1993;58(5):706-710.
30. Jordan G, Mollon JD. A study of women heterozygous for colour deficiencies. Vision Res 1993;33(11):1495-1508.
31. Went LN, Pronk N. The genetics of tritan disturbances. Hum Genet 1985;69(3):255-262.
32. Wright WD. The characteristics of tritanopia. J Opt Soc Am 1952;42(8):509-521.
33. Weitz CJ, Miyake Y, Shinzato K, Montag E, Zrenner E, Went LN et al. Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. Am J Hum Genet 1992;50(3):498-507.
34. Weitz CJ, Went LN, Nathans J. Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. Am J Hum Genet 1992;51(2):444-446.
35. Gunther KL, Neitz J, Neitz M. A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect. Vis Neurosci 2006;23 (3-4):403-409.
36. Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M et al. Molecular genetics of human blue cone monochromacy. Science 1989;245(4920):831-838.
37. Michaelides M, Johnson S, Simunovic MP, Bradshaw K, Holder G, Mollon JD et al. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals. Eye 2005;19(1):2-10.
38. Ladekjaer-Mikkelsen AS, Rosenberg T, Jorgensen AL. A new mechanism in blue cone monochromatism. Hum Genet 1996;98(4):403-408.
39. Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P et al. Gene conversion between red and defective green opsin gene in blue cone monochromacy. Genomics 1995;29(2):323-328.
40. Gardner JC, Michaelides M, Holder GE, Kanuga N, Webb TR, Mollon JD et al. Blue cone monochromacy: causative mutations and associated phenotypes. Mol Vis 2009;15: 876-884.
41. Sharpe LT, Stockman A, Jagle H, Nathans J. Opsin genes, cone photopigments, color vision and color blindness. In: Gegenfurtner KR, Sharpe LT (eds). Color Vision. Cambridge University Press: Cambridge, 1999.
42. Judd DB. Facts of color-blindness. J Opt Soc Am 1943;33(6):294-307.
43. Kohl S, Marx T, Giddings I, Jägle H, Jacobson SG, Apfelstedt-Sylla E et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet 1998;19(3):257-259.
44. Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP- gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet 2000;9(14):2107-2116.
45. Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet 2002;71(2):422-425.
46. Kazmi MA, Sakmar TP, Ostrer H. Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability. Invest Ophthalmol Vis Sci 1997;38(6):1074-1081.
47. Richards JE, Scott KM, Sieving PA. Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa. Ophthalmology 1995;102(4):669-677.
48. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol 2004;88(2):291-297.
49. Fleischman JA, O'Donnell Jr FE. 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(3):468-472.
50. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet 2002;23(2):109-120.
51. Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci 2007;48(8):3864-3871.
52. Boyle R. Some Uncommon Observations about Vitiated Sight. Printed by H. C. for John Taylor: London, 1688.
53. Mollon JD. 'Tho' she kneel'd in that place where they grew'. The uses and origins of primate colour vision. J Exp Biol 1989;146: 21-38.
54. Nicholl W. Account of a case of defective power to distinguish colours. Trans Med Chirurg Soc 1818;9: 359-363.
55. Chapanis A. The dark adaptation of the color anomalous measured with lights of different hue. J Gen Physiol 1947;30: 423-437.
56. Simunovic MP, Regan BC, Mollon JD. Is color vision deficiency an advantage under scotopic conditions? Invest Ophthalmol Vis Sci 2001;42(13):3357-3364.
57. Cole BL. Protan colour vision deficiency and road accidents. Clin Exp Optom 2002;85(4):246-253.
58. Boltz CL. A statue to Mr Trattles. Butterworths: London, 1952.
59. Spalding JA. Colour vision deficiency in the medical profession. Br J Gen Pract 1999;49(443):469-475.
60. Sharpe LT, Jagle H. I used to be color blind. Color Research and Application 2000;26 (S1):S269-S272.
61. Knoblauch K, McMahon MJ. Discrimination of binocular color mixtures in dichromacy: evaluation of the Maxwell-Cornsweet conjecture. J Opt Soc Am A Opt Image Sci Vis 1995;12(10):2219-2229.
62. Formankiewicz MA, Mollon JD. The psychophysics of detecting binocular discrepancies of luminance. Vision Res 2009;49(15):1929-1938.
63. Siegel IM. The X-Chrom lens. On seeing red. Surv Ophthalmol 1981;25(5):312-324.
64. Hovis JK. Long wavelength pass filters designed for the management of color vision deficiencies. Optom Vis Sci 1997;74(4):222-230.
65. Swarbrick HA, Nguyen P, Nguyen T, Pham P. The ChromaGen contact lens system: colour vision test results and subjective responses. Ophthalmic Physiol Opt 2001;21(3):182-196.
66. Alexander JJ, Umino Y, Everhart D, Chang B, Min SH, Li Q et al. Restoration of cone vision in a mouse model of achromatopsia. Nat Med 2007;13(6):685-687.
67. Varsanyi B, Somfai GM, Lesch B, Vámos R, Farkas A. Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci 2007;48(5):2249-2253.
68. Carroll J, Choi SS, Williams DR. In vivo imaging of the photoreceptor mosaic of a rod monochromat. Vision Res 2008;48(26):2564-2568.
69. Baseler HA, Brewer AA, Sharpe LT, Morland AB, Jägle H, Wandell BA. Reorganization of human cortical maps caused by inherited photoreceptor abnormalities. Nat Neurosci 2002;5(4):364-370.
70. Mancuso K, Hauswirth WW, Li Q, Connor TB, Kuchenbecker JA, Manck MC, et al. Gene therapy for red-green colour blindness in adult primates. Nature 2009;461(7265):737-739.