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MeSH Review


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Disease relevance of Retinitis


Psychiatry related information on Retinitis

  • A new self-examination chart, the Teich Target (copyright 1993, Steven A. Teich, pat. no. 370259), which tests the central 45 degrees of vision, was evaluated for its ability to screen AIDS patients for CMV retinitis [6].

High impact information on Retinitis

  • Mutations in Prph2 have been shown to result in a variety of photoreceptor dystrophies, including autosomal dominant retinitis pigmentosa and macular dystrophy [7].
  • Oral ganciclovir for patients with cytomegalovirus retinitis treated with a ganciclovir implant. Roche Ganciclovir Study Group [2].
  • C-terminal rhodopsin mutations responsible for retinitis pigmentosa inhibit this interaction [8].
  • The RP14 autosomal recessive Retinitis pigmentosa (arRP) locus has been mapped to a 2cM region of chromosome 6p21 [9].
  • In the current study, molecular genetic analysis of a consanguineous pedigree segregating for non-syndromic autosomal recessive retinitis pigmentosa (arRP) indicated that the affected siblings were homozygous by descent for a G4763A nucleotide substitution in RLBP1, the gene encoding cellular retinaldehyde-binding protein (CRALBP) [10].

Chemical compound and disease context of Retinitis


Biological context of Retinitis


Anatomical context of Retinitis


Gene context of Retinitis

  • Susceptibility of PKO mice to MCMV retinitis correlated with increased ocular MCMV titers when compared with ocular MCMV titers of gld and normal mice [23].
  • The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens [24].
  • PURPOSE: Mutations in the systemically expressed pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 have recently been associated with autosomal dominant retinitis pigmentosa (adRP) [25].
  • PURPOSE: To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mutation in the FSCN2 gene [26].
  • Because chemokines facilitate the activation of leukocytes and their migration to the sites of inflammation, the modulation of chemokine production by the virus suggests a role for chemokines in immune evasion and/or immunopathogenesis of CMV retinitis [27].

Analytical, diagnostic and therapeutic context of Retinitis


  1. Oral ganciclovir as maintenance treatment for cytomegalovirus retinitis in patients with AIDS. Syntex Cooperative Oral Ganciclovir Study Group. Drew, W.L., Ives, D., Lalezari, J.P., Crumpacker, C., Follansbee, S.E., Spector, S.A., Benson, C.A., Friedberg, D.N., Hubbard, L., Stempien, M.J. N. Engl. J. Med. (1995) [Pubmed]
  2. Oral ganciclovir for patients with cytomegalovirus retinitis treated with a ganciclovir implant. Roche Ganciclovir Study Group. Martin, D.F., Kuppermann, B.D., Wolitz, R.A., Palestine, A.G., Li, H., Robinson, C.A. N. Engl. J. Med. (1999) [Pubmed]
  3. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Vervoort, R., Lennon, A., Bird, A.C., Tulloch, B., Axton, R., Miano, M.G., Meindl, A., Meitinger, T., Ciccodicola, A., Wright, A.F. Nat. Genet. (2000) [Pubmed]
  4. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Yamamoto, H., Simon, A., Eriksson, U., Harris, E., Berson, E.L., Dryja, T.P. Nat. Genet. (1999) [Pubmed]
  5. A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. Verpy, E., Leibovici, M., Zwaenepoel, I., Liu, X.Z., Gal, A., Salem, N., Mansour, A., Blanchard, S., Kobayashi, I., Keats, B.J., Slim, R., Petit, C. Nat. Genet. (2000) [Pubmed]
  6. Evaluation of a new self-screening chart for cytomegalovirus retinitis in patients with AIDS. Teich, S.A., Saltzman, B.R. J. Acquir. Immune Defic. Syndr. Hum. Retrovirol. (1996) [Pubmed]
  7. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy. Ali, R.R., Sarra, G.M., Stephens, C., Alwis, M.D., Bainbridge, J.W., Munro, P.M., Fauser, S., Reichel, M.B., Kinnon, C., Hunt, D.M., Bhattacharya, S.S., Thrasher, A.J. Nat. Genet. (2000) [Pubmed]
  8. Rhodopsin's carboxy-terminal cytoplasmic tail acts as a membrane receptor for cytoplasmic dynein by binding to the dynein light chain Tctex-1. Tai, A.W., Chuang, J.Z., Bode, C., Wolfrum, U., Sung, C.H. Cell (1999) [Pubmed]
  9. TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Banerjee, P., Kleyn, P.W., Knowles, J.A., Lewis, C.A., Ross, B.M., Parano, E., Kovats, S.G., Lee, J.J., Penchaszadeh, G.K., Ott, J., Jacobson, S.G., Gilliam, T.C. Nat. Genet. (1998) [Pubmed]
  10. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Maw, M.A., Kennedy, B., Knight, A., Bridges, R., Roth, K.E., Mani, E.J., Mukkadan, J.K., Nancarrow, D., Crabb, J.W., Denton, M.J. Nat. Genet. (1997) [Pubmed]
  11. Intravenous cidofovir for peripheral cytomegalovirus retinitis in patients with AIDS. A randomized, controlled trial. Lalezari, J.P., Stagg, R.J., Kuppermann, B.D., Holland, G.N., Kramer, F., Ives, D.V., Youle, M., Robinson, M.R., Drew, W.L., Jaffe, H.S. Ann. Intern. Med. (1997) [Pubmed]
  12. Cytomegalovirus retinitis in immunosuppressed hosts. I. Natural history and effects of treatment with adenine arabinoside. Pollard, R.B., Egbert, P.R., Gallagher, J.G., Merigan, T.C. Ann. Intern. Med. (1980) [Pubmed]
  13. Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe. Farrar, G.J., Kenna, P., Redmond, R., McWilliam, P., Bradley, D.G., Humphries, M.M., Sharp, E.M., Inglehearn, C.F., Bashir, R., Jay, M. Am. J. Hum. Genet. (1990) [Pubmed]
  14. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. Riess, O., Noerremoelle, A., Weber, B., Musarella, M.A., Hayden, M.R. Am. J. Hum. Genet. (1992) [Pubmed]
  15. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Teague, P.W., Aldred, M.A., Jay, M., Dempster, M., Harrison, C., Carothers, A.D., Hardwick, L.J., Evans, H.J., Strain, L., Brock, D.J. Am. J. Hum. Genet. (1994) [Pubmed]
  16. Synthesis and characterization of a novel retinylamine analog inhibitor of constitutively active rhodopsin mutants found in patients with autosomal dominant retinitis pigmentosa. Yang, T., Snider, B.B., Oprian, D.D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  17. Peripherin/rds influences membrane vesicle morphology. Implications for retinopathies. Wrigley, J.D., Ahmed, T., Nevett, C.L., Findlay, J.B. J. Biol. Chem. (2000) [Pubmed]
  18. Repertoire, diversity, and differentiation of specific CD8 T cells are associated with immune protection against human cytomegalovirus disease. Sacre, K., Carcelain, G., Cassoux, N., Fillet, A.M., Costagliola, D., Vittecoq, D., Salmon, D., Amoura, Z., Katlama, C., Autran, B. J. Exp. Med. (2005) [Pubmed]
  19. Cytomegalovirus retinitis after initiation of highly active antiretroviral therapy. Jacobson, M.A., Zegans, M., Pavan, P.R., O'Donnell, J.J., Sattler, F., Rao, N., Owens, S., Pollard, R. Lancet (1997) [Pubmed]
  20. NK cell modulation of murine cytomegalovirus retinitis. Bigger, J.E., Thomas, C.A., Atherton, S.S. J. Immunol. (1998) [Pubmed]
  21. A case of ganciclovir-resistant cytomegalovirus (CMV) retinitis in a patient with AIDS: longitudinal molecular analysis of the CMV viral load and viral mutations in blood compartments. Boivin, G., Gilbert, C., Morissette, M., Handfield, J., Goyette, N., Bergeron, M.G. AIDS (1997) [Pubmed]
  22. Mitochondrial studies in Kearns-Sayre syndrome: normal respiratory chain function with absence of a mitochondrial translation product. Byrne, E., Marzuki, S., Sattayasai, N., Dennett, X., Trounce, I. Neurology (1987) [Pubmed]
  23. Loss of the perforin cytotoxic pathway predisposes mice to experimental cytomegalovirus retinitis. Dix, R.D., Podack, E.R., Cousins, S.W. J. Virol. (2003) [Pubmed]
  24. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Morimura, H., Berson, E.L., Dryja, T.P. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  25. Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Martínez-Gimeno, M., Gamundi, M.J., Hernan, I., Maseras, M., Millá, E., Ayuso, C., García-Sandoval, B., Beneyto, M., Vilela, C., Baiget, M., Antiñolo, G., Carballo, M. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  26. Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Wada, Y., Abe, T., Takeshita, T., Sato, H., Yanashima, K., Tamai, M. Invest. Ophthalmol. Vis. Sci. (2001) [Pubmed]
  27. Differential expression of chemokines by human retinal pigment epithelial cells infected with cytomegalovirus. Momma, Y., Nagineni, C.N., Chin, M.S., Srinivasan, K., Detrick, B., Hooks, J.J. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  28. Modifications of retinal neurons in a mouse model of retinitis pigmentosa. Strettoi, E., Pignatelli, V. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  29. Characterization of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Mutations on the cytoplasmic surface affect transducin activation. Min, K.C., Zvyaga, T.A., Cypess, A.M., Sakmar, T.P. J. Biol. Chem. (1993) [Pubmed]
  30. Phase II dose-ranging trial of foscarnet salvage therapy for cytomegalovirus retinitis in AIDS patients intolerant of or resistant to ganciclovir (ACTG protocol 093). AIDS Clinical Trials Group of the National Institute of Allergy and Infectious Diseases. Jacobson, M.A., Wulfsohn, M., Feinberg, J.E., Davis, R., Power, M., Owens, S., Causey, D., Heath-Chiozzi, M.E., Murphy, R.L., Cheung, T.W. AIDS (1994) [Pubmed]
  31. Ganciclovir therapy of severe cytomegalovirus infections in solid-organ transplant recipients. Harbison, M.A., De Girolami, P.C., Jenkins, R.L., Hammer, S.M. Transplantation (1988) [Pubmed]
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