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MeSH Review

Retinitis Pigmentosa

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Disease relevance of Retinitis Pigmentosa


Psychiatry related information on Retinitis Pigmentosa


High impact information on Retinitis Pigmentosa


Chemical compound and disease context of Retinitis Pigmentosa


Biological context of Retinitis Pigmentosa


Anatomical context of Retinitis Pigmentosa


Gene context of Retinitis Pigmentosa


  1. Ocular toxicity and antenatal exposure to chloroquine or hydroxychloroquine for rheumatic diseases. Klinger, G., Morad, Y., Westall, C.A., Laskin, C., Spitzer, K.A., Koren, G., Ito, S., Buncic, R.J. Lancet (2001) [Pubmed]
  2. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy. Graham , J.M., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W.J., Garritsen, V.H., Busch, D., Edersheim, T.G., Jaspers, N.G. Am. J. Hum. Genet. (2001) [Pubmed]
  3. Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis. Perrault, I., Hanein, S., Gerber, S., Barbet, F., Ducroq, D., Dollfus, H., Hamel, C., Dufier, J.L., Munnich, A., Kaplan, J., Rozet, J.M. Am. J. Hum. Genet. (2004) [Pubmed]
  4. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Edwards, J.A., Sethi, P.K., Scoma, A.J., Bannerman, R.M., Frohman, L.A. Am. J. Med. (1976) [Pubmed]
  5. Further refinement of the Usher 2A locus at 1q41. Bessant, D.A., Payne, A.M., Plant, C., Bird, A.C., Bhattacharya, S.S. J. Med. Genet. (1998) [Pubmed]
  6. A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24. Mitchell, S.J., McHale, D.P., Campbell, D.A., Lench, N.J., Mueller, R.F., Bundey, S.E., Markham, A.F. Am. J. Hum. Genet. (1998) [Pubmed]
  7. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Eichers, E.R., Green, J.S., Stockton, D.W., Jackman, C.S., Whelan, J., McNamara, J.A., Johnson, G.J., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2002) [Pubmed]
  8. A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G., Shoubridge, E.A. Hum. Mol. Genet. (1996) [Pubmed]
  9. Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy. Herzberg, N.H., van Schooneveld, M.J., Bleeker-Wagemakers, E.M., Zwart, R., Cremers, F.P., van der Knaap, M.S., Bolhuis, P.A., de Visser, M. Neurology (1993) [Pubmed]
  10. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. McHenry, C.L., Liu, Y., Feng, W., Nair, A.R., Feathers, K.L., Ding, X., Gal, A., Vollrath, D., Sieving, P.A., Thompson, D.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  11. Early-onset severe rod-cone dystrophy in young children with RPE65 mutations. Lorenz, B., Gyürüs, P., Preising, M., Bremser, D., Gu, S., Andrassi, M., Gerth, C., Gal, A. Invest. Ophthalmol. Vis. Sci. (2000) [Pubmed]
  12. A study of the relationship between neurological function and serum vitamin E concentrations in patients with cystic fibrosis. Willison, H.J., Muller, D.P., Matthews, S., Jones, S., Kriss, A., Stead, R.J., Hodson, M.E., Harding, A.E. J. Neurol. Neurosurg. Psychiatr. (1985) [Pubmed]
  13. Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy? Holmes-Walker, D.J., Mitchell, P., Boyages, S.C. Diabet. Med. (1998) [Pubmed]
  14. Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. Chalmers, R.M., Brockington, M., Howard, R.S., Lecky, B.R., Morgan-Hughes, J.A., Harding, A.E. J. Neurol. Sci. (1996) [Pubmed]
  15. Pigmentary retinopathy, macular oedema, and abnormal ERG with mitotane treatment. Ng, W.T., Toohey, M.G., Mulhall, L., Mackey, D.A. The British journal of ophthalmology. (2003) [Pubmed]
  16. Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey. Gillingham, M., Van Calcar, S., Ney, D., Wolff, J., Harding, C. J. Inherit. Metab. Dis. (1999) [Pubmed]
  17. The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. Veltel, S., Gasper, R., Eisenacher, E., Wittinghofer, A. Nat. Struct. Mol. Biol. (2008) [Pubmed]
  18. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. Lewis, C.A., Batlle, I.R., Batlle, K.G., Banerjee, P., Cideciyan, A.V., Huang, J., Alemán, T.S., Huang, Y., Ott, J., Gilliam, T.C., Knowles, J.A., Jacobson, S.G. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  19. Angulate lysosomes in skin biopsies of patients with degenerative neurological disorders: high frequency in neuronal ceroid lipofuscinosis. Dumontel, C., Rousselle, C., Guigard, M.P., Trouillas, J. Acta Neuropathol. (1999) [Pubmed]
  20. Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time. von Rückmann, A., Fitzke, F.W., Bird, A.C. Graefes Arch. Clin. Exp. Ophthalmol. (1999) [Pubmed]
  21. L-cystein protects the pigment epithelium from acute sodium iodate toxicity. Heike, M., Marmor, M.F. Documenta ophthalmologica. Advances in ophthalmology. (1990) [Pubmed]
  22. Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome. Hamacher, M., Pippirs, U., Köhler, A., Müller, H.W., Bosse, F. Mamm. Genome (2001) [Pubmed]
  23. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome. Héon, E., Westall, C., Carmi, R., Elbedour, K., Panton, C., Mackeen, L., Stone, E.M., Sheffield, V.C. Am. J. Med. Genet. A (2005) [Pubmed]
  24. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J.L., Munnich, A., Rozet, J.M., Kaplan, J. Hum. Mutat. (2004) [Pubmed]
  25. Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Rummelt, V., Folberg, R., Ionasescu, V., Yi, H., Moore, K.C. Ophthalmology (1993) [Pubmed]
  26. Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome. Steinlein, O., Tariverdian, G., Boll, H.U., Vogel, F. Am. J. Med. Genet. (1991) [Pubmed]
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