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Volumn 122, Issue 2, 2015, Pages 326-334

Clinical and molecular characteristics of childhood-onset stargardt disease

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EYE FUNDUS; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MACULAR DEGENERATION; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; RETINA CONE; RETINA FOVEA; RETINA ROD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STARGARDT DISEASE; VISUAL ACUITY; VISUAL IMPAIRMENT; DNA SEQUENCE; ELECTRORETINOGRAPHY; FLUORESCENCE ANGIOGRAPHY; GENETICS; MOLECULAR DIAGNOSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; OPTICAL COHERENCE TOMOGRAPHY; PATHOPHYSIOLOGY; PHYSIOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

EID: 84921485113     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2014.08.012     Document Type: Article
Times cited : (136)

References (41)
  • 1
    • 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 2003 641 650
    • (2003) J Med Genet , vol.40 , pp. 641-650
    • Michaelides, M.1    Hunt, D.M.2    Moore, A.T.3
  • 2
    • 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 1997 236 246
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 3
    • 0017052368 scopus 로고
    • Fundus flavimaculatus. A clinical classification
    • G.A. Fishman Fundus flavimaculatus. A clinical classification Arch Ophthalmol 94 1976 2061 2067
    • (1976) Arch Ophthalmol , vol.94 , pp. 2061-2067
    • Fishman, G.A.1
  • 4
    • 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 2007 1650 1655
    • (2007) Br J Ophthalmol , vol.91 , pp. 1650-1655
    • Michaelides, M.1    Chen, L.L.2    Brantley, Jr.M.A.3
  • 5
    • 84877745361 scopus 로고    scopus 로고
    • A longitudinal study of Stargardt disease: Clinical and electrophysiologic assessment, progression, and genotype correlations
    • K. Fujinami, N. Lois, and A.E. Davidson A longitudinal study of Stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations Am J Ophthalmol 155 2013 1075 1088
    • (2013) Am J Ophthalmol , vol.155 , pp. 1075-1088
    • Fujinami, K.1    Lois, N.2    Davidson, A.E.3
  • 6
    • 84887135603 scopus 로고    scopus 로고
    • The clinical effect of homozygous ABCA4 alleles in 18 patients
    • K. Fujinami, P.I. Sergouniotis, and A.E. Davidson The clinical effect of homozygous ABCA4 alleles in 18 patients Ophthalmology 120 2013 2324 2331
    • (2013) Ophthalmology , vol.120 , pp. 2324-2331
    • Fujinami, K.1    Sergouniotis, P.I.2    Davidson, A.E.3
  • 7
    • 84882263713 scopus 로고    scopus 로고
    • Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
    • K. Fujinami, P.I. Sergouniotis, and A.E. Davidson Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function Am J Ophthalmol 156 2013 487 501
    • (2013) Am J Ophthalmol , vol.156 , pp. 487-501
    • Fujinami, K.1    Sergouniotis, P.I.2    Davidson, A.E.3
  • 8
    • 84885466470 scopus 로고    scopus 로고
    • ABCA4 gene screening by next-generation sequencing in a British cohort
    • K. Fujinami, J. Zernant, and R.K. Chana ABCA4 gene screening by next-generation sequencing in a British cohort Invest Ophthalmol Vis Sci 54 2013 6662 6674
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , pp. 6662-6674
    • Fujinami, K.1    Zernant, J.2    Chana, R.K.3
  • 9
    • 84896726239 scopus 로고    scopus 로고
    • Fine central macular dots associated with childhood-onset Stargardt Disease
    • [letter online]
    • K. Fujinami, R. Singh, and J. Carroll Fine central macular dots associated with childhood-onset Stargardt Disease [letter online] Acta Ophthalmol 92 2014 e157 e159
    • (2014) Acta Ophthalmol , vol.92 , pp. e157-e159
    • Fujinami, K.1    Singh, R.2    Carroll, J.3
  • 10
    • 84894541201 scopus 로고    scopus 로고
    • A longitudinal study of Stargardt disease: Quantitative assessment of fundus autofluorescence, progression and genotype correlations
    • K. Fujianami, N. Lois, and R. Mukherjee A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression and genotype correlations Invest Ophthalmol Vis Sci 54 2014 8181 8190
    • (2014) Invest Ophthalmol Vis Sci , vol.54 , pp. 8181-8190
    • Fujianami, K.1    Lois, N.2    Mukherjee, R.3
  • 11
    • 79954993016 scopus 로고    scopus 로고
    • Stargardt disease with preserved central vision: Identification of a putative novel mutation in ATP-binding cassette transporter gene
    • [letter online]
    • K. Fujinami, M. Akahori, and M. Fukui Stargardt disease with preserved central vision: identification of a putative novel mutation in ATP-binding cassette transporter gene [letter online] Acta Ophthalmol 89 2011 e297 e298
    • (2011) Acta Ophthalmol , vol.89 , pp. e297-e298
    • Fujinami, K.1    Akahori, M.2    Fukui, M.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 2011 165 174
    • (2011) Ophthalmic Genet , vol.32 , pp. 165-174
    • Burke, T.R.1    Tsang, S.H.2
  • 13
    • 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 2003 1151 1158
    • (2003) Ophthalmology , vol.110 , pp. 1151-1158
    • Rotenstreich, Y.1    Fishman, G.A.2    Anderson, R.J.3
  • 14
    • 29544432413 scopus 로고    scopus 로고
    • Fundus autofluorescence in children and teenagers with hereditary retinal diseases
    • B. Wabbels, A. Demmler, and K. Paunescu Fundus autofluorescence in children and teenagers with hereditary retinal diseases Graefes Arch Clin Exp Ophthalmol 244 2006 36 45
    • (2006) Graefes Arch Clin Exp Ophthalmol , vol.244 , pp. 36-45
    • Wabbels, B.1    Demmler, A.2    Paunescu, K.3
  • 15
    • 84861882682 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of late-onset Stargardt's disease
    • S.C. Westeneng-van Haaften, C.J. Boon, and F.P. Cremers Clinical and genetic characteristics of late-onset Stargardt's disease Ophthalmology 119 2012 1199 1210
    • (2012) Ophthalmology , vol.119 , pp. 1199-1210
    • Westeneng-Van Haaften, S.C.1    Boon, C.J.2    Cremers, F.P.3
  • 16
    • 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, and S. Grover Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene Arch Ophthalmol 117 1999 504 510
    • (1999) Arch Ophthalmol , vol.117 , pp. 504-510
    • Fishman, G.A.1    Stone, E.M.2    Grover, S.3
  • 17
    • 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 2001 326 338
    • (2001) Hum Genet , vol.109 , pp. 326-338
    • Fumagalli, A.1    Ferrari, M.2    Soriani, N.3
  • 18
    • 84863968530 scopus 로고    scopus 로고
    • Morphology and function of the retina in children and young adults with Stargardt dystrophy
    • M. Jarc-Vidmar, D. Perovsek, and D. Glavac Morphology and function of the retina in children and young adults with Stargardt dystrophy Zdrav Vestn 81 suppl 2012 I-51 I-60
    • (2012) Zdrav Vestn , vol.81 , pp. I51-I60
    • Jarc-Vidmar, M.1    Perovsek, D.2    Glavac, D.3
  • 19
    • 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 1998 355 362
    • (1998) Hum Mol Genet , vol.7 , pp. 355-362
    • Cremers, F.P.1    Van De Pol, D.J.2    Van Driel, M.3
  • 20
    • 0034854473 scopus 로고    scopus 로고
    • Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration
    • C.E. Briggs, D. Rucinski, and P.J. Rosenfeld Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration Invest Ophthalmol Vis Sci 42 2001 2229 2236
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2229-2236
    • Briggs, C.E.1    Rucinski, D.2    Rosenfeld, P.J.3
  • 21
    • 0032540879 scopus 로고    scopus 로고
    • Organization of the ABCR gene: Analysis of promoter and splice junction sequences
    • R. Allikmets, W.W. Wasserman, and A. Hutchinson Organization of the ABCR gene: analysis of promoter and splice junction sequences Gene 215 1998 111 122
    • (1998) Gene , vol.215 , pp. 111-122
    • Allikmets, R.1    Wasserman, W.W.2    Hutchinson, A.3
  • 22
    • 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 2011 8479 8487
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 8479-8487
    • Zernant, J.1    Schubert, C.2    Im, K.M.3
  • 23
    • 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 1998 291 295
    • (1998) Eur J Hum Genet , vol.6 , pp. 291-295
    • Rozet, J.M.1    Gerber, S.2    Souied, E.3
  • 24
    • 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 1999 422 434
    • (1999) Am J Hum Genet , vol.64 , pp. 422-434
    • Lewis, R.A.1    Shroyer, N.F.2    Singh, N.3
  • 25
    • 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 2000 800 813
    • (2000) Am J Hum Genet , vol.67 , pp. 800-813
    • Rivera, A.1    White, K.2    Stohr, H.3
  • 27
    • 0035510172 scopus 로고    scopus 로고
    • Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
    • N.F. Shroyer, R.A. Lewis, and A.N. Yatsenko Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration Hum Mol Genet 10 2001 2671 2678
    • (2001) Hum Mol Genet , vol.10 , pp. 2671-2678
    • Shroyer, N.F.1    Lewis, R.A.2    Yatsenko, A.N.3
  • 28
    • 0036275421 scopus 로고    scopus 로고
    • Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene
    • B.J. Klevering, A. Blankenagel, and A. Maugeri Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene Invest Ophthalmol Vis Sci 43 2002 1980 1985
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 1980-1985
    • Klevering, B.J.1    Blankenagel, A.2    Maugeri, A.3
  • 29
    • 0038348753 scopus 로고    scopus 로고
    • ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
    • G.A. Fishman, E.M. Stone, and D.A. Eliason ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy Arch Ophthalmol 121 2003 851 855
    • (2003) Arch Ophthalmol , vol.121 , pp. 851-855
    • Fishman, G.A.1    Stone, E.M.2    Eliason, D.A.3
  • 30
    • 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 2005 159 167
    • (2005) Ophthalmic Res , vol.37 , pp. 159-167
    • Simonelli, F.1    Testa, F.2    Zernant, J.3
  • 31
    • 79955944090 scopus 로고    scopus 로고
    • Homozygosity mapping in patients with cone-rod dystrophy: Novel mutations and clinical characterizations
    • K.W. Littink, R.K. Koenekoop, and L.I. van den Born Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations Invest Ophthalmol Vis Sci 51 2010 5943 5951
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 5943-5951
    • Littink, K.W.1    Koenekoop, R.K.2    Van Den Born, L.I.3
  • 32
    • 80051519042 scopus 로고    scopus 로고
    • Further associations between mutations and polymorphisms in the ABCA4 gene: Clinical implication of allelic variants and their role as protector/risk factors
    • J. Aguirre-Lamban, J.J. Gonzalez-Aguilera, and R. Riveiro-Alvarez Further associations between mutations and polymorphisms in the ABCA4 gene: clinical implication of allelic variants and their role as protector/risk factors Invest Ophthalmol Vis Sci 52 2011 6206 6212
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 6206-6212
    • Aguirre-Lamban, J.1    Gonzalez-Aguilera, J.J.2    Riveiro-Alvarez, R.3
  • 33
    • 84887187194 scopus 로고    scopus 로고
    • Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: Retrospective analysis in 420 Spanish families
    • R. Riveiro-Alvarez, M.A. Lopez-Martinez, and J. Zernant Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families Ophthalmology 120 2013 2332 2337
    • (2013) Ophthalmology , vol.120 , pp. 2332-2337
    • Riveiro-Alvarez, R.1    Lopez-Martinez, M.A.2    Zernant, J.3
  • 34
    • 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 1999 1024 1035
    • (1999) Am J Hum Genet , vol.64 , pp. 1024-1035
    • Maugeri, A.1    Van Driel, M.A.2    Van De Pol, D.J.3
  • 35
    • 0035092144 scopus 로고    scopus 로고
    • Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
    • N. Lois, G.E. Holder, and C. Bunce Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus Arch Ophthalmol 119 2001 359 369
    • (2001) Arch Ophthalmol , vol.119 , pp. 359-369
    • Lois, N.1    Holder, G.E.2    Bunce, C.3
  • 36
    • 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 2012 146 154
    • (2012) Am J Ophthalmol , vol.154 , pp. 146-154
    • McBain, V.A.1    Townend, J.2    Lois, N.3
  • 37
    • 84857924549 scopus 로고    scopus 로고
    • Retinal structure, function, and molecular pathologic features in gyrate atrophy
    • P.I. Sergouniotis, A.E. Davidson, and E. Lenassi Retinal structure, function, and molecular pathologic features in gyrate atrophy Ophthalmology 119 2012 596 605
    • (2012) Ophthalmology , vol.119 , pp. 596-605
    • Sergouniotis, P.I.1    Davidson, A.E.2    Lenassi, E.3
  • 38
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV standard for full-field clinical electroretinography (2008 update)
    • International Society for Clinical Electrophysiology of Vision
    • M.F. Marmor, A.B. Fulton, G.E. Holder International Society for Clinical Electrophysiology of Vision ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 2009 69 77
    • (2009) Doc Ophthalmol , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3
  • 39
    • 84872621224 scopus 로고    scopus 로고
    • ISCEV standard for clinical pattern electroretinography (PERG): 2012 update
    • M. Bach, M.G. Brigell, and M. Hawlina ISCEV standard for clinical pattern electroretinography (PERG): 2012 update Doc Ophthalmol 126 2013 1 7
    • (2013) Doc Ophthalmol , vol.126 , pp. 1-7
    • Bach, M.1    Brigell, M.G.2    Hawlina, M.3
  • 40
    • 0034691089 scopus 로고    scopus 로고
    • Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
    • N.L. Mata, J. Weng, and G.H. Travis Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration Proc Natl Acad Sci U S A 97 2000 7154 7159
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 7154-7159
    • Mata, N.L.1    Weng, J.2    Travis, G.H.3
  • 41
    • 84860888442 scopus 로고    scopus 로고
    • Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy
    • S.M. Conley, X. Cai, and R. Makkia Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy Biochim Biophys Acta 1822 2012 1169 1179
    • (2012) Biochim Biophys Acta , vol.1822 , pp. 1169-1179
    • Conley, S.M.1    Cai, X.2    Makkia, R.3


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