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Original Article

Retinal pathology of a patient with Goldmann-Favre Syndrome

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Pages 172-180 | Received 14 Apr 2009, Accepted 06 Jul 2009, Published online: 23 Oct 2009

REFERENCES

  • Goldmann H. Présentation du rapport sur la biomicroscopie du du corps vitré et du fond d’oeil. Bull Mem Soc Fr Ophtalmol. 1957;70:265–272.
  • Favre M. Two cases of hyaloid-retinal degeneration. Ophthalmologica. 1958;135:604–609.
  • Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 1976;60:345–353.
  • Schmidt B., Weinberg M. Atypical retinopathia pigmentosa with central retinoschisis (Goldmann-Favre). Klin Monatsbl Augenheilkd. 1976;169:508–512.
  • Peyman GA, Fishman GA, Sanders DR, Vlchek J. Histopathology of Goldmann-Favre syndrome obtained by full-thickness eye-wall biopsy. Ann Ophthalmol. 1977;9:479–484.
  • Izumi K, Matsuhashi M. Goldmann-Favre syndrome in a four-year-old-girl. Doc Ophthalmol. 1977;66:219–226.
  • Nasr YG, Cherfan GM, Michels RG, Wilkinson CP. Goldmann-Favre maculopathy. Retina. 1990;10:178–180.
  • Garweg J, Bohnke M, Mangold I. Treatment of Goldmann-Favre syndrome with cyclosporin A and bromocriptine. Klin Monatsbl Augenheilkd. 1991;199:199–205.
  • Ikaheimo K, Tuppurainen K, Mantyjarvi M. Clinical features of Goldmann-Favre syndrome. Acta Ophthalmol Scand. 1999;77:459–461.
  • Jacobson SG, Roman AJ, Roman MI, Gass JDM, Parker JA. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 1991;111:446–453.
  • Kobayashi M, Takezawa S, Hara K, Yu RT, Umesono Y, Agata K, Taniwaki M, Yasuda K, Umesono K. Identification of a photoreceptor cell-specific nuclear receptor. Proc Natl Acad Sci USA. 1999;96:4814–4819.
  • Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 2000;24:127–131.
  • Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobisn SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Hum Mol Genet. 2006;15:2588–2602.
  • Bonilha VL, Hollyfield JG, Grover S, Hollyfield JG. Abnormal distribution of red/green cone opsins in a patient with an autosomal dominant cone dystrophy. Ophthalmic Genet. 2005;26:69–76.
  • Zhang H, Cuenca N, Ivanova T, Church-Kopish J, Frederick JM, MacLeish PR, Baebr W. Identification and light-dependent translocation of a cone-specific antigen, cone arrestin, recognized by monoclonal antibody 7G6. Invest Ophthalmol Vis Sci. 2003:44:2858–2867.
  • Bonilha VL, Trzupek KM, Li Y, et al. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet. 2008;29:99–110.
  • Ericson J, Morton S, Kawakami A, Roelink H, Jessell TM. Two critical periods of Sonic Hedgehog signaling required for the specification of motor neuron identity. Cell. 1996;87:661–673.
  • Desai AR, McConnell SK. Progressive restriction in fate potential by neural progenitors during cerebral cortical development. Development. 2000;127:2863–2872.
  • Levine EM, Fuhrmann S, Reh TA. Soluble factors and the development of rod photoreceptors. Cell Mol Life Sci. 2000;57:224–234.
  • Dyer MA, Cepko CL. Regulating proliferation during retinal development. Nat Rev Neurosci. 2001;2:333–342.
  • Ohnuma S, Harris WA. Neurogenesis and the cell cycle. Neuron. 2003;40:199–208.
  • Brivanlou AH, Darnell JE Jr. Signal transduction and the control of gene expression. Science. 2002;295:813–818.
  • Marquardt T, Gruss P. Generating neuronal diversity in the retina: one for nearly all. Trends Neurosci. 2002;25:32–38.
  • Levine M, Davidson EH. Gene regulatory networks for development. Proc Natl Acad Sci U S A. 2005;102:4936–4942.
  • Swaroop A, Xu JZ, Pawar H, Jackson A, Skolnick C, Agarwal N. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. Proc Natl Acad Sci U S A. 1992;89:266–270.
  • Chen S, Wang QL, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ. Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron. 1997;19:1017–1030.
  • Furukawa T, Morrow EM, Cepko CL. Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation. Cell. 1997;91:531–541.
  • Milam AH, Rose L, Cideciyan AV, Barakat MR, Tang WX, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci U S A. 2002;99:473–478. Epub 2002 Jan 2.
  • Sharon D, Sandberg MA, Caruso RC, Berson EL, Dryja TP. Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol. 2003;121:1316–1323.
  • Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat. 2004;24:439.
  • Jacobson SG, Sumaroka A, Aleman TS, et al. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Hum Mol Genet. 2004;13:1893–1902.
  • Akhmedov NB, Piriev NI, Chang B, Rapoport AL, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Dacinger M, Davisson MT, Farber DB. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A. 2000;97:5551–5556.
  • Haider NB, Naggert JK, Nishina PM. Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet. 2001;10:1619–1626.
  • Curcio CA, Allen KA, Sloan KR, Lerea CL, Hurley JB, Klock IB, Milam AH. Distribution and morphology of human cone photoreceptors stained with anti-blue opsin. J Comp Neurol. 1991;312:610–624.
  • Chen J, Rattner A, Nathans J. Effects of L1 retrotransposon insertion on transcript processing, localization and accumulation: lessons from the retinal degeneration 7 mouse and implications for the genomic ecology of L1 elements. Hum Mol Genet. 2006;15:2146–2156.
  • Roorda A, Metha AB, Lennie P, Williams DR. Packing arrangement of the three cone classes in primate retina. Vision Res. 2001;41:1291–1306.
  • Roorda A, Williams DR. The arrangement of the three cone classes in the living human eye. Nature. 1999;397:520–522.
  • Hong DH, Pawlyk BS, Shang J, Sandberg MA, Berson EL, Li T. A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). Proc Natl Acad Sci U S A. 2000;97:3649–3654.
  • Chrysostomou V, Stone J, Valter K. Life history of cones in the rhodopsin-mutant P23H-3 rat: evidence of long term survival. Invest Ophthalmol Vis Sci. 2008; Epub 2008 Dec 30.

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