메뉴 건너뛰기




Volumn 49, Issue 3, 2008, Pages 1191-1199

Evidence of widespread retinal dysfunction in patients with stargardt disease and morphologically unaffected carrier relatives

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COLOR VISION DEFECT; COMPUTER PROGRAM; CONTRAST SENSITIVITY; CONTROLLED STUDY; CORRELATION ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NERVE PROJECTION; PARAMETER; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; RETINA DISEASE; SCHOOL CHILD; STARGARDT DISEASE; TASK PERFORMANCE; VISUAL FIELD DEFECT; COLOR VISION TEST; DNA MICROARRAY; GENE EXPRESSION PROFILING; GENETIC SCREENING; GENETICS; HETEROZYGOTE DETECTION; MIDDLE AGED; MUTATION; PATHOLOGY; PSYCHOPHYSICS; RETINA; RETINA MACULA DEGENERATION; VISUAL FIELD;

EID: 41949095181     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.07-1051     Document Type: Article
Times cited : (31)

References (45)
  • 1
    • 34347130460 scopus 로고
    • Über familäre, progressive Degeneration in der Maculagegend des Auges
    • Stargardt K. Über familäre, progressive Degeneration in der Maculagegend des Auges. Graefes Arch Clin Exp Ophthalmol 1909;71: 534-550.
    • (1909) Graefes Arch Clin Exp Ophthalmol , vol.71 , pp. 534-550
    • Stargardt, K.1
  • 2
    • 0027372405 scopus 로고
    • A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
    • Kaplan J, Gerber S, Larget PD, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet. 1993;5:308 -311.
    • (1993) Nat Genet , vol.5 , pp. 308-311
    • Kaplan, J.1    Gerber, S.2    Larget, P.D.3
  • 3
    • 0015422018 scopus 로고
    • Stargardt's hereditary progressive macular degeneration
    • Irvine AR, Wergeland FL Jr. Stargardt's hereditary progressive macular degeneration. Br J Ophthalmol 1972;56:817-826.
    • (1972) Br J Ophthalmol , vol.56 , pp. 817-826
    • Irvine, A.R.1    Wergeland Jr., F.L.2
  • 4
    • 0002468579 scopus 로고
    • Fundus flavimaculatus
    • Newsom DA, ed, New York: Raven Press;
    • Blacharski PA. Fundus flavimaculatus. In: Newsom DA, ed. Retinal Dystrophies and Degenerations. New York: Raven Press; 1988; 135-159.
    • (1988) Retinal Dystrophies and Degenerations , pp. 135-159
    • Blacharski, P.A.1
  • 5
    • 0018308824 scopus 로고
    • Stargardt's disease and fundus flavimaculatus
    • Noble KG, Carr RE. Stargardt's disease and fundus flavimaculatus. Arch Ophthalmol. 1979;97:1281-1285.
    • (1979) Arch Ophthalmol , vol.97 , pp. 1281-1285
    • Noble, K.G.1    Carr, R.E.2
  • 6
    • 0022924342 scopus 로고
    • Stargardt's disease and fundus flavimaculatus: Evaluation of morphologic progression and intrafamilial co-existence
    • Aaberg TM. Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence. Trans Am Ophthalmol Soc. 1986;84:453-487.
    • (1986) Trans Am Ophthalmol Soc , vol.84 , pp. 453-487
    • Aaberg, T.M.1
  • 7
    • 0031940916 scopus 로고    scopus 로고
    • Long-term follow-up of Stargardt's disease and fundus flavimaculatus
    • Armstrong JD, Meyer D, Shizhao X, Elfervig JL. Long-term follow-up of Stargardt's disease and fundus flavimaculatus. Ophthalmology. 1998;105:448-458.
    • (1998) Ophthalmology , vol.105 , pp. 448-458
    • Armstrong, J.D.1    Meyer, D.2    Shizhao, X.3    Elfervig, J.L.4
  • 8
    • 0032859293 scopus 로고    scopus 로고
    • Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus
    • Lois N, Holder GE, Fitzke FW, Plant C, Bird AC. Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci. 1999;40:2668-2675.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2668-2675
    • Lois, N.1    Holder, G.E.2    Fitzke, F.W.3    Plant, C.4    Bird, A.C.5
  • 9
    • 0017052368 scopus 로고
    • Fundus flavimaculatus
    • Fishman GA. Fundus flavimaculatus. Arch Ophthalmol. 1976;94: 2061-2067.
    • (1976) Arch Ophthalmol , vol.94 , pp. 2061-2067
    • Fishman, G.A.1
  • 11
    • 0032900958 scopus 로고    scopus 로고
    • Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
    • Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999;117:504-510.
    • (1999) Arch Ophthalmol , vol.117 , 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
  • 12
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet. 1997;15:236-246.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 13
  • 14
    • 0034058085 scopus 로고    scopus 로고
    • Complex inheritance of ABCR mutations in Stargardt disease: Linkage disequilibrium, complex alleles, and pseudodominance
    • Shroyer NF, Lewis RA, Lupski JR. Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. Hum Genet. 2000;106:244-248.
    • (2000) Hum Genet , vol.106 , pp. 244-248
    • Shroyer, N.F.1    Lewis, R.A.2    Lupski, J.R.3
  • 15
    • 0033804333 scopus 로고    scopus 로고
    • A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration
    • Rivera A, White K, Stohr H, et al. A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet. 2000;67: 800-813.
    • (2000) Am J Hum Genet , vol.67 , pp. 800-813
    • Rivera, A.1    White, K.2    Stohr, H.3
  • 16
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer NF, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277:1805-1807.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.F.2    Singh, N.3
  • 17
    • 0031606609 scopus 로고    scopus 로고
    • Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR
    • Martinez-Mir A, Paloma E, Allikmets R, et al. Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR. Nat Genet. 1998;18:11-12.
    • (1998) Nat Genet , vol.18 , pp. 11-12
    • Martinez-Mir, A.1    Paloma, E.2    Allikmets, R.3
  • 19
    • 0031230154 scopus 로고    scopus 로고
    • Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
    • Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997;17:15-16.
    • (1997) Nat Genet , vol.17 , pp. 15-16
    • Sun, H.1    Nathans, J.2
  • 20
    • 0033936893 scopus 로고    scopus 로고
    • ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
    • Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet. 2000;25:257-258.
    • (2000) Nat Genet , vol.25 , pp. 257-258
    • Molday, L.L.1    Rabin, A.R.2    Molday, R.S.3
  • 21
    • 0035039989 scopus 로고    scopus 로고
    • L- and M-cone driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus
    • Scholl HPN, Kremers J, Vonthein R, White K, Weber BH. L- and M-cone driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 2001;42: 1380-1389.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1380-1389
    • Scholl, H.P.N.1    Kremers, J.2    Vonthein, R.3    White, K.4    Weber, B.H.5
  • 23
    • 0942287255 scopus 로고    scopus 로고
    • Early and late damage of parvo- and koniocellular function in ocular hypertension and glaucoma
    • Castelo-Branco M, Faria P, Forjaz V, Kozak LR, Azevedo H. Early and late damage of parvo- and koniocellular function in ocular hypertension and glaucoma. Invest Ophthalmol Vis Sci 2005;45 (2):499 -505.
    • (2005) Invest Ophthalmol Vis Sci , vol.45 , Issue.2 , pp. 499-505
    • Castelo-Branco, M.1    Faria, P.2    Forjaz, V.3    Kozak, L.R.4    Azevedo, H.5
  • 25
    • 26044475845 scopus 로고    scopus 로고
    • Independent patterns of damage within magno-, parvo- and koniocellular pathways in Parkinson's disease
    • Silva MF, Faria P, Regateiro FS, et al. Independent patterns of damage within magno-, parvo- and koniocellular pathways in Parkinson's disease. Brain 2005;128:2260-2271.
    • (2005) Brain , vol.128 , pp. 2260-2271
    • Silva, M.F.1    Faria, P.2    Regateiro, F.S.3
  • 26
    • 28844481879 scopus 로고    scopus 로고
    • Visual magnocellular and structure from motion perceptual deficits in a neurodevelopmental model of dorsal stream function
    • Mendes M, Silva F, Simoes L, Jorge M, Saraiva J, Castelo-Branco M. Visual magnocellular and structure from motion perceptual deficits in a neurodevelopmental model of dorsal stream function. Brain Res Cogn Brain Res. 2005;25 (3):788 -798.
    • (2005) Brain Res Cogn Brain Res , vol.25 , Issue.3 , pp. 788-798
    • Mendes, M.1    Silva, F.2    Simoes, L.3    Jorge, M.4    Saraiva, J.5    Castelo-Branco, M.6
  • 27
    • 0026031006 scopus 로고
    • Automated perimetry in glaucoma
    • Caprioli J. Automated perimetry in glaucoma. Am J Ophthalmol. 1991;111:235-239.
    • (1991) Am J Ophthalmol , vol.111 , pp. 235-239
    • Caprioli, J.1
  • 28
    • 0031148160 scopus 로고    scopus 로고
    • A comparison of the components of the multifocal and full-field ERGs
    • Hood DC, Seiple W, Holopigian K, Greenstein V. A comparison of the components of the multifocal and full-field ERGs. Vis Neurosci. 1997;14:533-544.
    • (1997) Vis Neurosci , vol.14 , pp. 533-544
    • Hood, D.C.1    Seiple, W.2    Holopigian, K.3    Greenstein, V.4
  • 29
    • 10744227207 scopus 로고    scopus 로고
    • Genotyping microarray (gene chip) for the ABCR (ABCA4) gene
    • Jaakson K, Zernant J, Kulm M. et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003;22:395-403.
    • (2003) Hum Mutat , vol.22 , pp. 395-403
    • Jaakson, K.1    Zernant, J.2    Kulm, M.3
  • 30
    • 0034060144 scopus 로고    scopus 로고
    • New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease
    • Simonelli F, Testa F, de Crecchio G, et al. New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. Invest Ophthalmol Vis Sci 2000;41:892-897.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 892-897
    • Simonelli, F.1    Testa, F.2    de Crecchio, G.3
  • 31
    • 35748966739 scopus 로고    scopus 로고
    • Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus
    • Boon CJ, van Schooneveld MJ, den Hollander AI, et al. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. Br J Ophthalmol 2007;91:1504-1511.
    • (2007) Br J Ophthalmol , vol.91 , pp. 1504-1511
    • Boon, C.J.1    van Schooneveld, M.J.2    den Hollander, A.I.3
  • 32
    • 9444242132 scopus 로고    scopus 로고
    • Contrast sensitivity deficits in inferred magnocellular and parvocellular pathways in retinitis pigmentosa
    • Alexander KR, Barnes CS, Fishman GA, Pokorny J, Smith VC. Contrast sensitivity deficits in inferred magnocellular and parvocellular pathways in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2004;45:4510-4519.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 4510-4519
    • Alexander, K.R.1    Barnes, C.S.2    Fishman, G.A.3    Pokorny, J.4    Smith, V.C.5
  • 33
    • 24644451236 scopus 로고    scopus 로고
    • Contrast response properties of magnocellular and parvocellular pathways in retinitis pigmentosa assessed by the visual evoked potential
    • Alexander KR, Rajagopalan AS, Seiple W, Zemon VM, Fishman GA. Contrast response properties of magnocellular and parvocellular pathways in retinitis pigmentosa assessed by the visual evoked potential. Invest Ophthalmol Vis Sci. 2005;46:2967-2973.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 2967-2973
    • Alexander, K.R.1    Rajagopalan, A.S.2    Seiple, W.3    Zemon, V.M.4    Fishman, G.A.5
  • 34
    • 0028046856 scopus 로고
    • M and P retinal ganglion cells of diurnal and nocturnal New-World monkeys
    • Silveira LC, Yamada ES, Perry VH, Picanco-Diniz CW. M and P retinal ganglion cells of diurnal and nocturnal New-World monkeys. Neuroreport. 1994;5:2077-2081.
    • (1994) Neuroreport , vol.5 , pp. 2077-2081
    • Silveira, L.C.1    Yamada, E.S.2    Perry, V.H.3    Picanco-Diniz, C.W.4
  • 35
    • 0027389144 scopus 로고
    • How parallel are the primate visual pathways?
    • Merigan WH, Maunsell JH. How parallel are the primate visual pathways? Annu Rev Neurosci. 1993;16:369-402.
    • (1993) Annu Rev Neurosci , vol.16 , pp. 369-402
    • Merigan, W.H.1    Maunsell, J.H.2
  • 36
    • 0025817410 scopus 로고
    • Selective effects of experimental glaucoma on axonal transport by retinal ganglion cells to the dorsal lateral geniculate nucleus
    • Dandona L, Hendrickson A, Quigley HA. Selective effects of experimental glaucoma on axonal transport by retinal ganglion cells to the dorsal lateral geniculate nucleus. Invest Ophthalmol Vis Sci. 1991;32:1593-1599.
    • (1991) Invest Ophthalmol Vis Sci , vol.32 , pp. 1593-1599
    • Dandona, L.1    Hendrickson, A.2    Quigley, H.A.3
  • 38
    • 0022370129 scopus 로고
    • The ganglion cell and cone distribution in the monkey retina: Implications for central magnification factors
    • Perry VH, Cowey A. The ganglion cell and cone distribution in the monkey retina: implications for central magnification factors. Vision Res. 1985;25:1795-1810.
    • (1985) Vision Res , vol.25 , pp. 1795-1810
    • Perry, V.H.1    Cowey, A.2
  • 39
    • 0035057754 scopus 로고    scopus 로고
    • M and P retinal ganglion cells of the owl monkey: Morphology, size and photoreceptor convergence
    • Yamada ES, Silveira LC, Perry VH, Franco EC. M and P retinal ganglion cells of the owl monkey: morphology, size and photoreceptor convergence. Vision Res. 2001;41:119-131.
    • (2001) Vision Res , vol.41 , pp. 119-131
    • Yamada, E.S.1    Silveira, L.C.2    Perry, V.H.3    Franco, E.C.4
  • 41
    • 0033237315 scopus 로고    scopus 로고
    • Maugeri A, van Driel MA, van de Pol, et al. The 2588G3←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. 1999;64:1024-1035.
    • Maugeri A, van Driel MA, van de Pol, et al. The 2588G3←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. 1999;64:1024-1035.
  • 42
    • 85047697453 scopus 로고    scopus 로고
    • The ABCA4 2588G.C Stargardt mutation: Single origin and increasing frequency from South-West to North-East Europe
    • Maugeri A, Flothmann K, Hemmrich N, et al. The ABCA4 2588G.C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet. 2002;10:197-203.
    • (2002) Eur J Hum Genet , vol.10 , pp. 197-203
    • Maugeri, A.1    Flothmann, K.2    Hemmrich, N.3
  • 43
    • 0034944895 scopus 로고    scopus 로고
    • Delayed dark-adaptation and lipofuscin accumulation in abcr/2 mice: Implications for involvement of ABCR in age-related macular degeneration
    • Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH. Delayed dark-adaptation and lipofuscin accumulation in abcr/2 mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2001;42,1685-1690.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 1685-1690
    • Mata, N.L.1    Tzekov, R.T.2    Liu, X.3    Weng, J.4    Birch, D.G.5    Travis, G.H.6
  • 44
    • 26444510862 scopus 로고    scopus 로고
    • ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies
    • Wiszniewski W, Zaremba C, Yatsenko A, et al. ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. Hum Mol Genet. 2005;14(19):2769-2778.
    • (2005) Hum Mol Genet , vol.14 , Issue.19 , pp. 2769-2778
    • Wiszniewski, W.1    Zaremba, C.2    Yatsenko, A.3
  • 45
    • 0032796491 scopus 로고    scopus 로고
    • Age-related macular degeneration in grandparents of patients with Stargardt disease: Genetic study
    • Souied EH, Ducroq D, Gerber S, et al. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study. Am J Ophthalmol. 1999;128(2):173-178.
    • (1999) Am J Ophthalmol , vol.128 , Issue.2 , pp. 173-178
    • Souied, E.H.1    Ducroq, D.2    Gerber, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.