The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Color Vision Defects

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Color Vision Defects


Psychiatry related information on Color Vision Defects


High impact information on Color Vision Defects

  • A second locus at 8q21-q22 has been identified among the Pingelapese islanders of Micronesia, who have a high incidence of recessive achromatopsia (MIM 262300) [6].
  • Numerous reports have been published concerning linkage of X-chromosome markers of the q28 region (including protan and deutan color blindness [CB] and glucose-6-phosphate dehydrogenase deficiency) to manic-depressive illness [7].
  • Linkage between an X-chromosome marker (deutan color blindness) and bipolar affective illness. Occurrence in the family of a lithium carbonate-responsive schizo-affective proband [8].
  • Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia [9].
  • CNGA3 mutations were detected not only in patients with the complete form of achromatopsia but also in incomplete achromats with residual cone photoreceptor function and (rarely) in patients with evidence for severe progressive cone dystrophy [10].

Chemical compound and disease context of Color Vision Defects


Biological context of Color Vision Defects


Anatomical context of Color Vision Defects

  • The phenotypic characteristics of cpfl1 mice are similar to those observed in patients with complete achromatopsia (ACHM2, OMIM 216900) and the cpfl1 mutation is the first naturally-arising mutation in mice to cause cone-specific photoreceptor function loss. cpfl1 mice may provide a model for congenital achromatopsia in humans [19].

Gene context of Color Vision Defects


Analytical, diagnostic and therapeutic context of Color Vision Defects


  1. Cyclic nucleotide-gated ion channels. Kaupp, U.B., Seifert, R. Physiol. Rev. (2002) [Pubmed]
  2. Alström syndrome. Report of 22 cases and literature review. Russell-Eggitt, I.M., Clayton, P.T., Coffey, R., Kriss, A., Taylor, D.S., Taylor, J.F. Ophthalmology (1998) [Pubmed]
  3. Nystagmus mimicking spasmus nutans as the presenting sign of Bardet-Biedl syndrome. Gottlob, I., Helbling, A. Am. J. Ophthalmol. (1999) [Pubmed]
  4. A case-control study of primary hepatocellular carcinoma in Taiwan. Lu, S.N., Lin, T.M., Chen, C.J., Chen, J.S., Liaw, Y.F., Chang, W.Y., Hsu, S.T. Cancer (1988) [Pubmed]
  5. Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. Neiswanger, K., Slaugenhaupt, S.A., Hughes, H.B., Frank, E., Frankel, D.R., McCarty, M.J., Chakravarti, A., Zubenko, G.S., Kupfer, D.J., Kaplan, B.B. Biol. Psychiatry (1990) [Pubmed]
  6. Genetic basis of total colourblindness among the Pingelapese islanders. Sundin, O.H., Yang, J.M., Li, Y., Zhu, D., Hurd, J.N., Mitchell, T.N., Silva, E.D., Maumenee, I.H. Nat. Genet. (2000) [Pubmed]
  7. X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees. Berrettini, W.H., Goldin, L.R., Gelernter, J., Gejman, P.V., Gershon, E.S., Detera-Wadleigh, S. Arch. Gen. Psychiatry (1990) [Pubmed]
  8. Linkage between an X-chromosome marker (deutan color blindness) and bipolar affective illness. Occurrence in the family of a lithium carbonate-responsive schizo-affective proband. Baron, M. Arch. Gen. Psychiatry (1977) [Pubmed]
  9. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Kohl, S., Baumann, B., Rosenberg, T., Kellner, U., Lorenz, B., Vadalà, M., Jacobson, S.G., Wissinger, B. Am. J. Hum. Genet. (2002) [Pubmed]
  10. CNGA3 mutations in hereditary cone photoreceptor disorders. Wissinger, B., Gamer, D., Jägle, H., Giorda, R., Marx, T., Mayer, S., Tippmann, S., Broghammer, M., Jurklies, B., Rosenberg, T., Jacobson, S.G., Sener, E.C., Tatlipinar, S., Hoyng, C.B., Castellan, C., Bitoun, P., Andreasson, S., Rudolph, G., Kellner, U., Lorenz, B., Wolff, G., Verellen-Dumoulin, C., Schwartz, M., Cremers, F.P., Apfelstedt-Sylla, E., Zrenner, E., Salati, R., Sharpe, L.T., Kohl, S. Am. J. Hum. Genet. (2001) [Pubmed]
  11. Color vision deficits during laser lithotripsy using safety goggles for coumarin green or alexandrite but not with holmium:YAG laser safety goggles. Teichman, J.M., Johnson, A.J., Yates, J.T., Angle, B.N., Dirks, M.S., Muirhead, J.T., Thompson, I.M., Pearle, M.S. J. Urol. (1998) [Pubmed]
  12. Ethambutol-induced color-blindness in goldfish: a behavioral, electrophysiological and morphological study. Spekreijse, H., Wietsma, J.J., Neumeyer, C. Neurosci. Res. Suppl. (1991) [Pubmed]
  13. Disturbance of central vision after carbon monoxide poisoning. Fine, R.D., Parker, G.D. Australian and New Zealand journal of ophthalmology. (1996) [Pubmed]
  14. Psychophysical evaluation of toxic effects on sensory systems. Hanson, H.M. Fed. Proc. (1975) [Pubmed]
  15. Frequent alterations of visual pigment genes in adrenoleukodystrophy. Aubourg, P.R., Sack, G.H., Moser, H.W. Am. J. Hum. Genet. (1988) [Pubmed]
  16. Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Fleischman, J.A., O'Donnell, F.E. Arch. Ophthalmol. (1981) [Pubmed]
  17. Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). Aligianis, I.A., Forshew, T., Johnson, S., Michaelides, M., Johnson, C.A., Trembath, R.C., Hunt, D.M., Moore, A.T., Maher, E.R. J. Med. Genet. (2002) [Pubmed]
  18. Linkage disequilibrium between glucose-6-phosphate dehydrogenase deficiency and congenital color blindness in Turkish population. Yücel, G., Yücel, I., Bağci, H., Aksu, G., Lüleci, G., Gümüşlü, S., Aksu, T.A., Duranoğlu, Y. Jpn. J. Ophthalmol. (1992) [Pubmed]
  19. Retinal degeneration mutants in the mouse. Chang, B., Hawes, N.L., Hurd, R.E., Davisson, M.T., Nusinowitz, S., Heckenlively, J.R. Vision Res. (2002) [Pubmed]
  20. Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. Peng, C., Rich, E.D., Varnum, M.D. J. Biol. Chem. (2003) [Pubmed]
  21. G6PD haplotypes spanning Xq28 from F8C to red/green color vision. Filosa, S., Calabrò, V., Lania, G., Vulliamy, T.J., Brancati, C., Tagarelli, A., Luzzatto, L., Martini, G. Genomics (1993) [Pubmed]
  22. Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy. Pentao, L., Lewis, R.A., Ledbetter, D.H., Patel, P.I., Lupski, J.R. Am. J. Hum. Genet. (1992) [Pubmed]
  23. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Sidjanin, D.J., Lowe, J.K., McElwee, J.L., Milne, B.S., Phippen, T.M., Sargan, D.R., Aguirre, G.D., Acland, G.M., Ostrander, E.A. Hum. Mol. Genet. (2002) [Pubmed]
  24. A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate. Rojas, C.V., María, L.S., Santos, J.L., Cortés, F., Alliende, M.A. Eur. J. Hum. Genet. (2002) [Pubmed]
  25. Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia. Neuhann, T., Krastel, H., Jaeger, W. Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie. Albrecht von Graefe's archive for clinical and experimental ophthalmology. (1978) [Pubmed]
WikiGenes - Universities