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Volumn 155, Issue 6, 2013, Pages

A longitudinal study of Stargardt disease: Clinical and electrophysiologic assessment, progression, and genotype correlations

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA4 PROTEIN; UNCLASSIFIED DRUG;

EID: 84877745361     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2013.01.018     Document Type: Article
Times cited : (128)

References (45)
  • 1
    • 34347130460 scopus 로고
    • Uber familiare progressive degeneration in der makulagegend des auges
    • K. Stargardt Uber familiare progressive degeneration in der makulagegend des auges Albrecht von Graefes Arch Klin Ophthalmol 71 1909 534 550
    • (1909) Albrecht von Graefes Arch Klin Ophthalmol , vol.71 , pp. 534-550
    • Stargardt, K.1
  • 3
    • 0041328518 scopus 로고    scopus 로고
    • The genetics of inherited macular dystrophies
    • M. Michaelides, D.M. Hunt, and A.T. Moore The genetics of inherited macular dystrophies J Med Genet 40 9 2003 641 650
    • (2003) J Med Genet , vol.40 , Issue.9 , pp. 641-650
    • Michaelides, M.1    Hunt, D.M.2    Moore, A.T.3
  • 4
    • 3042839168 scopus 로고    scopus 로고
    • Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus
    • N. Lois, A.S. Halfyard, A.C. Bird, G.E. Holder, and F.W. Fitzke Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus Am J Ophthalmol 138 1 2004 55 63
    • (2004) Am J Ophthalmol , vol.138 , Issue.1 , pp. 55-63
    • Lois, N.1    Halfyard, A.S.2    Bird, A.C.3    Holder, G.E.4    Fitzke, F.W.5
  • 5
    • 84862761654 scopus 로고    scopus 로고
    • Progression of retinal pigment epithelial atrophy in stargardt disease
    • V.A. McBain, J. Townend, and N. Lois Progression of retinal pigment epithelial atrophy in stargardt disease Am J Ophthalmol 154 1 2012 146 154
    • (2012) Am J Ophthalmol , vol.154 , Issue.1 , pp. 146-154
    • McBain, V.A.1    Townend, J.2    Lois, N.3
  • 7
    • 0038321461 scopus 로고    scopus 로고
    • Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
    • Y. Rotenstreich, G.A. Fishman, and R.J. Anderson Visual acuity loss and clinical observations in a large series of patients with Stargardt disease Ophthalmology 110 6 2003 1151 1158
    • (2003) Ophthalmology , vol.110 , Issue.6 , pp. 1151-1158
    • Rotenstreich, Y.1    Fishman, G.A.2    Anderson, R.J.3
  • 8
    • 0030610180 scopus 로고    scopus 로고
    • In vivo fundus autofluorescence in macular dystrophies
    • A. von Ruckmann, F.W. Fitzke, and A.C. Bird In vivo fundus autofluorescence in macular dystrophies Arch Ophthalmol 115 5 1997 609 615
    • (1997) Arch Ophthalmol , vol.115 , Issue.5 , pp. 609-615
    • Von Ruckmann, A.1    Fitzke, F.W.2    Bird, A.C.3
  • 9
    • 65449159433 scopus 로고    scopus 로고
    • Natural history of phenotypic changes in Stargardt macular dystrophy
    • S. Walia, and G.A. Fishman Natural history of phenotypic changes in Stargardt macular dystrophy Ophthalmic Genet 30 2 2009 63 68
    • (2009) Ophthalmic Genet , vol.30 , Issue.2 , pp. 63-68
    • Walia, S.1    Fishman, G.A.2
  • 10
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • R. Allikmets, N. Singh, and H. Sun A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy Nat Genet 15 3 1997 236 246
    • (1997) Nat Genet , vol.15 , Issue.3 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 11
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • R. Allikmets, N.F. Shroyer, and N. Singh Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration Science 277 5333 1997 1805 1807
    • (1997) Science , vol.277 , Issue.5333 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 12
    • 80051709984 scopus 로고    scopus 로고
    • Allelic and phenotypic heterogeneity in ABCA4 mutations
    • T.R. Burke, and S.H. Tsang Allelic and phenotypic heterogeneity in ABCA4 mutations Ophthalmic Genet 32 3 2011 162 174
    • (2011) Ophthalmic Genet , vol.32 , Issue.3 , pp. 162-174
    • Burke, T.R.1    Tsang, S.H.2
  • 13
    • 6844259885 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    • F.P. Cremers, D.J. van de Pol, and M. van Driel Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR Hum Mol Genet 7 3 1998 355 362
    • (1998) Hum Mol Genet , vol.7 , Issue.3 , pp. 355-362
    • Cremers, F.P.1    Van De Pol, D.J.2    Van Driel, M.3
  • 16
    • 0032859293 scopus 로고    scopus 로고
    • Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus
    • N. Lois, G.E. Holder, F.W. Fitzke, C. Plant, and A.C. Bird Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatus Invest Ophthalmol Vis Sci 40 11 1999 2668 2675
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , Issue.11 , pp. 2668-2675
    • Lois, N.1    Holder, G.E.2    Fitzke, F.W.3    Plant, C.4    Bird, A.C.5
  • 17
    • 36749074541 scopus 로고    scopus 로고
    • ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
    • M. Michaelides, L.L. Chen, and M.A. Brantley Jr. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy Br J Ophthalmol 91 12 2007 1650 1655
    • (2007) Br J Ophthalmol , vol.91 , Issue.12 , pp. 1650-1655
    • Michaelides, M.1    Chen, L.L.2    Brantley, Jr.M.A.3
  • 19
    • 79954993016 scopus 로고    scopus 로고
    • Stargardt disease with preserved central vision: Identification of a putative novel mutation in ATP-binding cassette transporter gene
    • K. Fujinami, M. Akahori, M. Fukui, K. Tsunoda, T. Iwata, and Y. Miyake Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene Acta Ophthalmol 89 3 2011 e297 e298
    • (2011) Acta Ophthalmol , vol.89 , Issue.3
    • Fujinami, K.1    Akahori, M.2    Fukui, M.3    Tsunoda, K.4    Iwata, T.5    Miyake, Y.6
  • 20
  • 21
    • 0032900958 scopus 로고    scopus 로고
    • Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
    • G.A. Fishman, E.M. Stone, S. Grover, D.J. Derlacki, H.L. Haines, and R.R. Hockey Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 4 1999 504 510
    • (1999) Arch Ophthalmol , vol.117 , Issue.4 , pp. 504-510
    • Fishman, G.A.1    Stone, E.M.2    Grover, S.3    Derlacki, D.J.4    Haines, H.L.5    Hockey, R.R.6
  • 22
    • 0034804936 scopus 로고    scopus 로고
    • Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients
    • A. Fumagalli, M. Ferrari, and N. Soriani Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients Hum Genet 109 3 2001 326 338
    • (2001) Hum Genet , vol.109 , Issue.3 , pp. 326-338
    • Fumagalli, A.1    Ferrari, M.2    Soriani, N.3
  • 23
    • 10744227207 scopus 로고    scopus 로고
    • Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
    • K. Jaakson, J. Zernant, and M. Kulm Genotyping microarray (gene chip) for the ABCR (ABCA4) gene Hum Mutat 22 5 2003 395 403
    • (2003) Hum Mutat , vol.22 , Issue.5 , pp. 395-403
    • Jaakson, K.1    Zernant, J.2    Kulm, M.3
  • 25
    • 0033071210 scopus 로고    scopus 로고
    • Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
    • R.A. Lewis, N.F. Shroyer, and N. Singh Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease Am J Hum Genet 64 2 1999 422 434
    • (1999) Am J Hum Genet , vol.64 , Issue.2 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3
  • 26
    • 0033988793 scopus 로고    scopus 로고
    • An analysis of ABCR mutations in British patients with recessive retinal dystrophies
    • M. Papaioannou, L. Ocaka, and D. Bessant An analysis of ABCR mutations in British patients with recessive retinal dystrophies Invest Ophthalmol Vis Sci 41 1 2000 16 19
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , Issue.1 , pp. 16-19
    • Papaioannou, M.1    Ocaka, L.2    Bessant, D.3
  • 27
    • 0033804333 scopus 로고    scopus 로고
    • A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    • A. Rivera, K. White, and H. Stohr A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration Am J Hum Genet 67 4 2000 800 813
    • (2000) Am J Hum Genet , vol.67 , Issue.4 , pp. 800-813
    • Rivera, A.1    White, K.2    Stohr, H.3
  • 28
    • 13144294983 scopus 로고    scopus 로고
    • Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
    • J.M. Rozet, S. Gerber, and E. Souied Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies Eur J Hum Genet 6 3 1998 291 295
    • (1998) Eur J Hum Genet , vol.6 , Issue.3 , pp. 291-295
    • Rozet, J.M.1    Gerber, S.2    Souied, E.3
  • 29
    • 0035032384 scopus 로고    scopus 로고
    • An analysis of allelic variation in the ABCA4 gene
    • A.R. Webster, E. Heon, and A.J. Lotery An analysis of allelic variation in the ABCA4 gene Invest Ophthalmol Vis Sci 42 6 2001 1179 1189
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , Issue.6 , pp. 1179-1189
    • Webster, A.R.1    Heon, E.2    Lotery, A.J.3
  • 30
    • 84856077133 scopus 로고    scopus 로고
    • Analysis of the ABCA4 gene by next-generation sequencing
    • J. Zernant, C. Schubert, and K.M. Im Analysis of the ABCA4 gene by next-generation sequencing Invest Ophthalmol Vis Sci 52 11 2011 8479 8487
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , Issue.11 , pp. 8479-8487
    • Zernant, J.1    Schubert, C.2    Im, K.M.3
  • 31
    • 0035092144 scopus 로고    scopus 로고
    • Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
    • N. Lois, G.E. Holder, C. Bunce, F.W. Fitzke, and A.C. Bird Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus Arch Ophthalmol 119 3 2001 359 369
    • (2001) Arch Ophthalmol , vol.119 , Issue.3 , pp. 359-369
    • Lois, N.1    Holder, G.E.2    Bunce, C.3    Fitzke, F.W.4    Bird, A.C.5
  • 32
    • 34247623697 scopus 로고    scopus 로고
    • Vaegan, Bach M. ISCEV standard for clinical pattern electroretinography - 2007 update
    • G.E. Holder, M.G. Brigell, M. Hawlina, and T. Meigen Vaegan, Bach M. ISCEV standard for clinical pattern electroretinography - 2007 update Doc Ophthalmol 114 3 2007 111 116
    • (2007) Doc Ophthalmol , vol.114 , Issue.3 , pp. 111-116
    • Holder, G.E.1    Brigell, M.G.2    Hawlina, M.3    Meigen, T.4
  • 34
    • 75149182350 scopus 로고    scopus 로고
    • "Cone dystrophy with supernormal rod electroretinogram": A comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology
    • A.G. Robson, A.R. Webster, and M.M. Michaelides "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology Retina 30 1 2010 51 62
    • (2010) Retina , vol.30 , Issue.1 , pp. 51-62
    • Robson, A.G.1    Webster, A.R.2    Michaelides, M.M.3
  • 35
    • 84858018249 scopus 로고    scopus 로고
    • The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice
    • E. Lenassi, A.G. Robson, M. Hawlina, and G.E. Holder The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice Retina 32 3 2012 589 599
    • (2012) Retina , vol.32 , Issue.3 , pp. 589-599
    • Lenassi, E.1    Robson, A.G.2    Hawlina, M.3    Holder, G.E.4
  • 36
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • M. Orita, H. Iwahana, H. Kanazawa, K. Hayashi, and T. Sekiya Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms Proc Natl Acad Sci U S A 86 8 1989 2766 2770
    • (1989) Proc Natl Acad Sci U S A , vol.86 , Issue.8 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 37
    • 0043122919 scopus 로고    scopus 로고
    • SIFT: Predicting amino acid changes that affect protein function
    • P.C. Ng, and S. Henikoff SIFT: predicting amino acid changes that affect protein function Nucleic Acids Res 31 13 2003 3812 3814
    • (2003) Nucleic Acids Res , vol.31 , Issue.13 , pp. 3812-3814
    • Ng, P.C.1    Henikoff, S.2
  • 38
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • I.A. Adzhubei, S. Schmidt, and L. Peshkin A method and server for predicting damaging missense mutations Nat Methods 7 4 2010 248 249
    • (2010) Nat Methods , vol.7 , Issue.4 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 39
    • 0019413127 scopus 로고
    • The effect of age on human cone and rod ganzfeld electroretinograms
    • R.G. Weleber The effect of age on human cone and rod ganzfeld electroretinograms Invest Ophthalmol Vis Sci 20 3 1981 392 399
    • (1981) Invest Ophthalmol Vis Sci , vol.20 , Issue.3 , pp. 392-399
    • Weleber, R.G.1
  • 40
    • 67349126591 scopus 로고    scopus 로고
    • G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy
    • W. Cella, V.C. Greenstein, and J. Zernant-Rajang G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy Exp Eye Res 89 1 2009 16 24
    • (2009) Exp Eye Res , vol.89 , Issue.1 , pp. 16-24
    • Cella, W.1    Greenstein, V.C.2    Zernant-Rajang, J.3
  • 41
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • A. Martinez-Mir, E. Paloma, and R. Allikmets Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR Nat Genet 18 1 1998 11 12
    • (1998) Nat Genet , vol.18 , Issue.1 , pp. 11-12
    • Martinez-Mir, A.1    Paloma, E.2    Allikmets, R.3
  • 42
    • 77956503700 scopus 로고    scopus 로고
    • Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population
    • E.I. Schindler, E.L. Nylen, and A.C. Ko Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population Hum Mol Genet 19 19 2010 3693 3701
    • (2010) Hum Mol Genet , vol.19 , Issue.19 , pp. 3693-3701
    • Schindler, E.I.1    Nylen, E.L.2    Ko, A.C.3
  • 43
    • 22544466134 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in Italian families with Stargardt disease
    • F. Simonelli, F. Testa, and J. Zernant Genotype-phenotype correlation in Italian families with Stargardt disease Ophthalmic Res 37 3 2005 159 167
    • (2005) Ophthalmic Res , vol.37 , Issue.3 , pp. 159-167
    • Simonelli, F.1    Testa, F.2    Zernant, J.3
  • 44
    • 10044284036 scopus 로고    scopus 로고
    • Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa
    • B.J. Klevering, S. Yzer, and K. Rohrschneider Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa Eur J Hum Genet 12 12 2004 1024 1032
    • (2004) Eur J Hum Genet , vol.12 , Issue.12 , pp. 1024-1032
    • Klevering, B.J.1    Yzer, S.2    Rohrschneider, K.3
  • 45
    • 0033237315 scopus 로고    scopus 로고
    • The 2588G - >c mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease
    • A. Maugeri, M.A. van Driel, and D.J. van de Pol The 2588G - >C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease Am J Hum Genet 64 4 1999 1024 1035
    • (1999) Am J Hum Genet , vol.64 , Issue.4 , pp. 1024-1035
    • Maugeri, A.1    Van Driel, M.A.2    Van De Pol, D.J.3


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