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MeSH Review

Optic Atrophy

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Disease relevance of Optic Atrophy


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Chemical compound and disease context of Optic Atrophy


Biological context of Optic Atrophy


Anatomical context of Optic Atrophy


Gene context of Optic Atrophy


Analytical, diagnostic and therapeutic context of Optic Atrophy


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  2. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Barrett, T.G., Bundey, S.E., Macleod, A.F. Lancet (1995) [Pubmed]
  3. Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity. Collier, D.A., Barrett, T.G., Curtis, D., Macleod, A., Arranz, M.J., Maassen, J.A., Bundey, S. Am. J. Hum. Genet. (1996) [Pubmed]
  4. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Young, T.L., Ives, E., Lynch, E., Person, R., Snook, S., MacLaren, L., Cater, T., Griffin, A., Fernandez, B., Lee, M.K., King, M.C., Cator, T. Hum. Mol. Genet. (2001) [Pubmed]
  5. Partial Wolfram syndrome (DIDMOAD): two new patients in a family. Diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Hernandez-Mijares, A., Morillas, C., Lluch, n.u.l.l., Martinez-Triguero, M.L., Muñoz, M.L., Gomez, M., Merino, M.A., Escudero, M. Diabetes Care (1999) [Pubmed]
  6. Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease. Nakamura, M., Fujiwara, Y., Yamamoto, M. Invest. Ophthalmol. Vis. Sci. (1993) [Pubmed]
  7. New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Mégarbané, A., Delague, V., Ruchoux, M.M., Rizkallah, E., Maurage, C.A., Viollet, L., Rouaix-Emery, N., Urtizberea, A. Am. J. Med. Genet. (2001) [Pubmed]
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  10. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). Inoue, H., Tanizawa, Y., Wasson, J., Behn, P., Kalidas, K., Bernal-Mizrachi, E., Mueckler, M., Marshall, H., Donis-Keller, H., Crock, P., Rogers, D., Mikuni, M., Kumashiro, H., Higashi, K., Sobue, G., Oka, Y., Permutt, M.A. Nat. Genet. (1998) [Pubmed]
  11. Neuropathy and optic atrophy associted with halquinol. Hanson, O., Herxheimer, O. Lancet (1981) [Pubmed]
  12. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Anikster, Y., Kleta, R., Shaag, A., Gahl, W.A., Elpeleg, O. Am. J. Hum. Genet. (2001) [Pubmed]
  13. Letter: Diiodohydroxyquin and optic atrophy. Idriss, Z.H. Pediatrics (1975) [Pubmed]
  14. The mechanism of disc pallor in experimental optic atrophy. A fluorescein angiographic study. Radius, R.L., Anderson, D.R. Arch. Ophthalmol. (1979) [Pubmed]
  15. Spastic paraparesis without optic atrophy after occupational methanol exposure. Hageman, G., van der Hoek, J.A., Faber, C.G. J. Neurol. (2003) [Pubmed]
  16. Scleral fixation of dislocated posterior chamber intraocular lenses: Temporary haptic externalization through a clear corneal incision. Kokame, G.T., Yamamoto, I., Mandel, H. Journal of cataract and refractive surgery. (2004) [Pubmed]
  17. Optic nerve in globoid leukodystrophy (Krabbe's disease). Ultrastructural changes. Brownstein, S., Meagher-Villemure, K., Polomeno, R.C., Little, J.M. Arch. Ophthalmol. (1978) [Pubmed]
  18. Familial optic atrophy with negative electroretinograms. Weleber, R.G., Miyake, Y. Arch. Ophthalmol. (1992) [Pubmed]
  19. A new syndrome with cerebro-oculo-skeletal-renal involvement. Silengo, M.C., Lerone, M., Pelizza, A., Gatti, R., Barabino, A., Romeo, G. Pediatric radiology. (1990) [Pubmed]
  20. Visual field defects, cup-disc ratio and fluorescein angiography in glaucomatous optic atrophy. Tsukahara, S., Nagataki, S., Sugaya, M., Yoshida, S., Komuro, Y. Advances in ophthalmology = Fortschritte der Augenheilkunde = Progrès en ophtalmologie. (1978) [Pubmed]
  21. Optic nerve head extracellular matrix in primary optic atrophy and experimental glaucoma. Morrison, J.C., Dorman-Pease, M.E., Dunkelberger, G.R., Quigley, H.A. Arch. Ophthalmol. (1990) [Pubmed]
  22. Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome) and pantothenate kinase-associated neurodegeneration. Thomas, M., Hayflick, S.J., Jankovic, J. Mov. Disord. (2004) [Pubmed]
  23. Cerebellar hypoplasia in respiratory chain dysfunction. Lincke, C.R., van den Bogert, C., Nijtmans, L.G., Wanders, R.J., Tamminga, P., Barth, P.G. Neuropediatrics. (1996) [Pubmed]
  24. Subacute myelo-optic neuropathy (SMON). First neuro-pathological report outside Japan. Ricoy, J.R., Ortega, A., Cabello, A. J. Neurol. Sci. (1982) [Pubmed]
  25. Visual evoked potential abnormalities in Charcot-Marie-Tooth disease and comparison with Friedreich's ataxia. Carroll, W.M., Jones, S.J., Halliday, A.M. J. Neurol. Sci. (1983) [Pubmed]
  26. Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product. Hofmann, S., Philbrook, C., Gerbitz, K.D., Bauer, M.F. Hum. Mol. Genet. (2003) [Pubmed]
  27. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Amati-Bonneau, P., Guichet, A., Olichon, A., Chevrollier, A., Viala, F., Miot, S., Ayuso, C., Odent, S., Arrouet, C., Verny, C., Calmels, M.N., Simard, G., Belenguer, P., Wang, J., Puel, J.L., Hamel, C., Malthièry, Y., Bonneau, D., Lenaers, G., Reynier, P. Ann. Neurol. (2005) [Pubmed]
  28. Ocular manifestations in Fukuyama type congenital muscular dystrophy. Yoshioka, M., Kuroki, S., Kondo, T. Brain Dev. (1990) [Pubmed]
  29. Molecular genetic basis of primary inherited optic neuropathies. Votruba, M. Eye (London, England) (2004) [Pubmed]
  30. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Züchner, S., De Jonghe, P., Jordanova, A., Claeys, K.G., Guergueltcheva, V., Cherninkova, S., Hamilton, S.R., Van Stavern, G., Krajewski, K.M., Stajich, J., Tournev, I., Verhoeven, K., Langerhorst, C.T., de Visser, M., Baas, F., Bird, T., Timmerman, V., Shy, M., Vance, J.M. Ann. Neurol. (2006) [Pubmed]
  31. Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome. Treft, R.L., Sanborn, G.E., Carey, J., Swartz, M., Crisp, D., Wester, D.C., Creel, D. Ophthalmology (1984) [Pubmed]
  32. Widespread choroidal insufficiency in primary open-angle glaucoma. Yin, Z.Q., Vaegan, n.u.l.l., Millar, T.J., Beaumont, P., Sarks, S. Journal of glaucoma. (1997) [Pubmed]
  33. Retinociliary vein associated with a craniopharyngioma. Weiter, J.J. Annals of ophthalmology. (1979) [Pubmed]
  34. Visual rehabilitation of patients with advanced stages of glaucoma, optic atrophy, myopia or retinitis pigmentosa. Nilsson, U.L. Documenta ophthalmologica. Advances in ophthalmology. (1988) [Pubmed]
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