X-linked cone dysfunction syndrome with myopia and protanopia

Ophthalmology

Volumn 112, Issue 8, 2005, Pages

  Michaelides, Michel ^a,b   Johnson, Samantha ^a   Bradshaw, Keith ^c   Holder, Graham E ^b   Simunovic, Matthew P ^d   Mollon, John D ^d   Moore, Anthony T ^a,b   Hunt, David M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UK   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OPSIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ASTIGMATISM; BLOOD SAMPLING; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COLOR BLINDNESS; CONTROLLED STUDY; DISEASE COURSE; DNA EXTRACTION; DNA SEQUENCE; EXON; EYE FUNDUS; FAMILY; GENE AMPLIFICATION; GENE LOCUS; GENETIC ANALYSIS; HUMAN; HYBRID GENE; INFORMED CONSENT; INHERITANCE; MALE; MOLECULAR GENETICS; MYOPIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTANOPIA; PSYCHOPHYSICS; RETINA CONE; RETINA DISEASE; VISUAL ACUITY; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

EID: 23044502668     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2005.02.021     Document Type: Article

References (31)

1. M. Michaelides, D.M. Hunt, A.T. Moore The cone dysfunction syndromes Br J Ophthalmol 88 2004 291 297
2. M.P. Simunovic, A.T. Moore The cone dystrophies Eye 12 1998 553 565
3. S. Johnson, M. Michaelides, I.A. Aligianis Achromatopsia caused by novel mutations in both CNGA3 and CNGB3 [article online] J Med Genet 41 2004 e20 Available at: http://jmg.bmjjournals.com/cgi/content/full/41/2/e20. Accessed February 21, 2005
4. B. Wissinger, D. Gamer, H. Jägle CNGA3 mutations in hereditary cone photoreceptor disorders Am J Hum Genet 69 2001 722 737
5. M. Michaelides, S. Johnson, M.P. Simunovic Blue cone monochromatism a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals Eye 19 2005 2 10
6. J. Nathans, C.M. Davenport, I.H. Maumenee Molecular genetics of human blue cone monochromacy Science 245 1989 831 838
7. R. Ayyagari, L.E. Kakuk, E.L. Bingham Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy Hum Genet 107 2000 75 82
8. E. Reichel, A.M. Bruce, M.A. Sandberg, E.L. Berson An electroretinographic and molecular genetic study of X-linked cone degeneration Am J Ophthalmol 108 1989 540 547
9. U. Kellner, B. Sadowski, E. Zrenner, M.H. Foerster Selective cone dystrophy with protan genotype Invest Ophthalmol Vis Sci 36 1995 2381 2387
10. S.S. Deeb, D.T. Lindsey, Y. Hibiya Genotype-phenotype relationships in human red/green color-vision defects molecular and psychophysical studies Am J Hum Genet 51 1992 687 700
11. J. Winderickx, L. Battisti, A.G. Motulsky, S.S. Deeb Selective expression of human X chromosome-linked green opsin genes Proc Natl Acad Sci U S A 89 1992 9710 9714
12. H. Ueyama, S. Kuwayama, H. Imai Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies Biochem Biophys Res Commun 294 2002 205 209
13. M. Neitz, J. Neitz, G.H. Jacobs Genetic basis of photopigment variations in human dichromats Vision Res 35 1995 2095 2103
14. W.M. Jagla, H. Jagle, T. Hayashi The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes Hum Mol Genet 11 2002 23 32
15. M. Haim, H.C. Fledelius, D. Skarsholm X-linked myopia in a Danish family Acta Ophthalmol (Copenh) 66 1988 450 456
16. M. Schwartz, M. Haim, D. Skarsholm X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq Clin Genet 38 1990 281 286
17. M.F. Marmor, G.E. Holder, M.W. Seeliger, S. Yamamoto International Society for Clinical Electrophysiology of Vision Standard for clinical electroretinography (2004 update) Doc Ophthalmol 108 2004 107 114
18. M.F. Marmor, E. Zrenner Standard for clinical electro-oculography International Society for Clinical Electrophysiology of Vision Arch Ophthalmol 111 1993 601 604
19. Mollon JD, Astell S, Reffin JP. A minimalist test of colour vision. In: Drum B, Moreland JD, Serra A, eds. Colour Vision Deficiencies X: Proceedings of the Tenth Symposium of the International Research Group on Colour Vision Deficiencies, Held in Cagliari, Italy, 25-28 June 1989. Dordrecht, The Netherlands: Kluwer Academic Publishers; 1991:59-67. Documenta Ophthalmologica. Proceedings Series. Vol. 54.
20. B.C. Regan, J.P. Reffin, J.D. Mollon Luminance noise and the rapid determination of discrimination ellipses in colour deficiency Vision Res 34 1994 1279 1299
21. J. Nathans, D. Thomas, D.S. Hogness Molecular genetics of human colour vision the genes encoding blue, green, and red pigments Science 232 1986 193 202
22. K.S. Dulai, M. von Dornum, J.D. Mollon, D.M. Hunt The evolution of trichromatic color vision by opsin gene duplication in New World and Old World primates Genome Res 9 1999 629 638
23. A.B. Asenjo, J. Rim, D.D. Oprian Molecular determinants of human red/green color discrimination Neuron 12 1994 1131 1138
24. S.L. Merbs, J. Nathans Absorption spectra of the hybrid pigments responsible for anomalous color vision Science 258 1992 464 466
25. M.A. Kazmi, T.P. Sakmar, H. Ostrer 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 38 1997 1074 1081
26. L.L. Sloan, D.J. Brown Progressive retinal degeneration with selective involvement of the cone mechanism Am J Ophthalmol 54 1962 629 641
27. M.A. Musarella, R.G. Weleber, W.H. Murphy Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3 Genomics 5 1989 727 737
28. J. Kaplan, A. Pelet, C. Martin Phenotype-genotype correlations in X linked retinitis pigmentosa J Med Genet 29 1992 615 623
29. T.L. Young, S.S. Deeb, S.M. Ronan X-linked high myopia associated with cone dysfunction Arch Ophthalmol 122 2004 897 908
30. A.A. Bergen, A.J. Pinckers Localization of a novel X-linked progressive cone dystrophy gene to Xq27 evidence for genetic heterogeneity Am J Hum Genet 60 1997 1468 1473
31. M. Drummond-Borg, S.S. Deeb, A.G. Motulsky Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry Proc Natl Acad Sci U S A 86 1989 983 987