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Volumn 54, Issue 2, 2013, Pages 1378-1383

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DATA ANALYSIS; FEMALE; GENE; GENE MUTATION; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; PERIMETRY; PRIORITY JOURNAL; RPE65 GENE; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD; VISUAL SYSTEM PARAMETERS;

EID: 84874957891     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11341     Document Type: Article
Times cited : (19)

References (45)
  • 1
    • 77958609552 scopus 로고    scopus 로고
    • Treatment possibilities for retinitis pigmentosa
    • Jacobson SG, Cideciyan AV. Treatment possibilities for retinitis pigmentosa. N Engl J Med. 2010;363:1669-1671.
    • (2010) N Engl J Med. , vol.363 , pp. 1669-1671
    • Jacobson, S.G.1    Cideciyan, A.V.2
  • 2
    • 77954620055 scopus 로고    scopus 로고
    • Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy
    • Cideciyan AV. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy. Prog Retin Eye Res. 2010;29:398-427.
    • (2010) Prog Retin Eye Res. , vol.29 , pp. 398-427
    • Cideciyan, A.V.1
  • 3
    • 24344447781 scopus 로고    scopus 로고
    • Outcome measures and their application in clinical trials for retinal degenerative diseases: Outline, review, and perspective
    • Fishman GA, Jacobson SG, Alexander KR, et al. Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective. Retina. 2005;25:772-777.
    • (2005) Retina. , vol.25 , pp. 772-777
    • Fishman, G.A.1    Jacobson, S.G.2    Alexander, K.R.3
  • 4
    • 77956985453 scopus 로고    scopus 로고
    • The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders
    • Bramall AN, Wright AF, Jacobson SG, McInnes RR. The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders. Annu Rev Neurosci. 2010;33: 441-472.
    • (2010) Annu Rev Neurosci. , vol.33 , pp. 441-472
    • Bramall, A.N.1    Wright, A.F.2    Jacobson, S.G.3    McInnes, R.R.4
  • 6
    • 0021255224 scopus 로고
    • Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa
    • Ross DF, Fishman GA, Gilbert LD, Anderson RJ. Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa. Arch Ophthalmol. 1984;102:1004-1010.
    • (1984) Arch Ophthalmol. , vol.102 , pp. 1004-1010
    • Ross, D.F.1    Fishman, G.A.2    Gilbert, L.D.3    Anderson, R.J.4
  • 8
    • 0033504787 scopus 로고    scopus 로고
    • Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy
    • Birch DG, Anderson JL, Fish GE. Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy. Ophthalmology. 1999;106:258-268.
    • (1999) Ophthalmology. , vol.106 , pp. 258-268
    • Birch, D.G.1    Anderson, J.L.2    Fish, G.E.3
  • 9
    • 84855173890 scopus 로고    scopus 로고
    • Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa
    • Bittner AK, Iftikhar MH, Dagnelie G. Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2011;52:8042-8046.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , pp. 8042-8046
    • Bittner, A.K.1    Iftikhar, M.H.2    Dagnelie, G.3
  • 10
    • 20944447776 scopus 로고    scopus 로고
    • Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
    • Jacobson SG, Aleman TS, Cideciyan AV, et al. Identifying photoreceptors in blind eyes caused by RPE65 mutations: prerequisite for human gene therapy success. Proc Natl Acad Sci U S A. 2005;102:6177-6182.
    • (2005) Proc Natl Acad Sci U S A. , vol.102 , pp. 6177-6182
    • Jacobson, S.G.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 12
    • 53449092841 scopus 로고    scopus 로고
    • Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations
    • Jacobson SG, Cideciyan AV, Aleman TS, et al. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2008; 49:4573-4577.
    • (2008) Invest Ophthalmol Vis Sci. , vol.49 , pp. 4573-4577
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 13
    • 65549112569 scopus 로고    scopus 로고
    • Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations
    • Jacobson SG, Aleman TS, Cideciyan AV, et al. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2009;50:2368-2375.
    • (2009) Invest Ophthalmol Vis Sci. , vol.50 , pp. 2368-2375
    • Jacobson, S.G.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 14
    • 0024363398 scopus 로고
    • Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa
    • Jacobson SG, Yagasaki K, Feuer WJ, Román AJ. Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa. Exp Eye Res. 1989;48:679-691.
    • (1989) Exp Eye Res. , vol.48 , pp. 679-691
    • Jacobson, S.G.1    Yagasaki, K.2    Feuer, W.J.3    Román, A.J.4
  • 15
    • 0022589162 scopus 로고
    • Computerized quantitative analysis of kinetic visual fields
    • Weleber RG, Tobler WR. Computerized quantitative analysis of kinetic visual fields. Am J Ophthalmol. 1986;101:461-468.
    • (1986) Am J Ophthalmol. , vol.101 , pp. 461-468
    • Weleber, R.G.1    Tobler, W.R.2
  • 16
    • 0025115276 scopus 로고
    • Conversion of planimetric visual field data into solid angles and retinal areas
    • Dagnelie G. Conversion of planimetric visual field data into solid angles and retinal areas. Clin Vision Sci. 1990;5:95-100.
    • (1990) Clin Vision Sci. , vol.5 , pp. 95-100
    • Dagnelie, G.1
  • 17
    • 13944283732 scopus 로고    scopus 로고
    • Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
    • Schwartz SB, Aleman TS, Cideciyan AV, et al. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005;46:734-743.
    • (2005) Invest Ophthalmol Vis Sci. , vol.46 , pp. 734-743
    • Schwartz, S.B.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 18
    • 47249166431 scopus 로고    scopus 로고
    • Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene
    • Herrera W, Aleman TS, Cideciyan AV, et al. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci. 2008;49:2651-2660.
    • (2008) Invest Ophthalmol Vis Sci. , vol.49 , pp. 2651-2660
    • Herrera, W.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 19
    • 84857662146 scopus 로고    scopus 로고
    • Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene
    • Stone EM, Luo X, Heon E, et al. Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. Invest Ophthalmol Vis Sci. 2011;52:9665-9673.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , pp. 9665-9673
    • Stone, E.M.1    Luo, X.2    Heon, E.3
  • 20
    • 79952217011 scopus 로고    scopus 로고
    • Human retinal disease from AIPL1 gene mutations: Foveal cone loss with minimal macular photoreceptors and rod function remaining
    • Jacobson SG, Cideciyan AV, Aleman TS, et al. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining. Invest Ophthalmol Vis Sci. 2011;52:70-79.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , pp. 70-79
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 21
    • 84855170002 scopus 로고    scopus 로고
    • Retinal disease course in Usher syndrome 1B due to MYO7A mutations
    • Jacobson SG, Cideciyan AV, Gibbs D, et al. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci. 2011;52:7924-7936.
    • (2011) Invest Ophthalmol Vis Sci. , vol.52 , pp. 7924-7936
    • Jacobson, S.G.1    Cideciyan, A.V.2    Gibbs, D.3
  • 22
    • 84867907906 scopus 로고    scopus 로고
    • RPGR-associated retinal degeneration in human X-linked RP and a murine model
    • Huang WC, Wright AF, Roman AJ, et al. RPGR-associated retinal degeneration in human X-linked RP and a murine model. Invest Ophthalmol Vis Sci. 2012;53:5594-5608.
    • (2012) Invest Ophthalmol Vis Sci. , vol.53 , pp. 5594-5608
    • Huang, W.C.1    Wright, A.F.2    Roman, A.J.3
  • 23
    • 0022347471 scopus 로고
    • Photocoagulation for diabetic macular edema. Report number 1
    • Early Treatment Diabetic Retinopathy Study Research Group
    • Early Treatment Diabetic Retinopathy Study Research Group. Photocoagulation for diabetic macular edema. Report number 1. Arch Ophthalmol. 1985;103:1796-1806.
    • (1985) Arch Ophthalmol. , vol.103 , pp. 1796-1806
  • 24
    • 0033808222 scopus 로고    scopus 로고
    • Submacular surgery trials randomized pilot trial of laser photocoagulation versus surgery for recurrent choroidal neovascularization secondary to age-related macular degeneration: I. Ophthalmic outcomes submacular surgery trials pilot study report number 1
    • Bressler NM, Bressler SB, Hawkins BS, et al. Submacular surgery trials randomized pilot trial of laser photocoagulation versus surgery for recurrent choroidal neovascularization secondary to age-related macular degeneration: I. Ophthalmic outcomes submacular surgery trials pilot study report number 1. Am J Ophthalmol. 2000;130:387-407.
    • (2000) Am J Ophthalmol , vol.130 , pp. 387-407
    • Bressler, N.M.1    Bressler, S.B.2    Hawkins, B.S.3
  • 25
    • 0030596840 scopus 로고    scopus 로고
    • Measurement error
    • Bland JM, Altman DG. Measurement error. BMJ. 1996;313:744.
    • (1996) BMJ. , vol.313 , pp. 744
    • Bland, J.M.1    Altman, D.G.2
  • 26
    • 0030697403 scopus 로고    scopus 로고
    • Assessing agreement between measurements recorded on a ratio scale in sports medicine and sports science
    • Nevill AM, Atkinson G. Assessing agreement between measurements recorded on a ratio scale in sports medicine and sports science. Br J Sports Med. 1997;31:314-318.
    • (1997) Br J Sports Med. , vol.31 , pp. 314-318
    • Nevill, A.M.1    Atkinson, G.2
  • 27
    • 84871214661 scopus 로고    scopus 로고
    • Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: Residual cone-photoreceptor vision correlates with biochemical properties of the mutants
    • Jacobson SG, Cideciyan AV, Peshenko IV, et al. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum Mol Genet. 2013; 22:168-183.
    • (2013) Hum Mol Genet. , vol.22 , pp. 168-183
    • Jacobson, S.G.1    Cideciyan, A.V.2    Peshenko, I.V.3
  • 29
    • 0027215872 scopus 로고
    • A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa
    • Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993;111:761-772.
    • (1993) Arch Ophthalmol. , vol.111 , pp. 761-772
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3
  • 30
    • 77950795808 scopus 로고    scopus 로고
    • Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A
    • Berson EL, Rosner B, Sandberg MA, et al. Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A. Arch Ophthalmol. 2010;128:403-411.
    • (2010) Arch Ophthalmol. , vol.128 , pp. 403-411
    • Berson, E.L.1    Rosner, B.2    Sandberg, M.A.3
  • 31
    • 34250186447 scopus 로고    scopus 로고
    • Natural course of visual field loss in patients with Type 2 Usher syndrome
    • Fishman GA, Bozbeyoglu S, Massof RW, Kimberling W. Natural course of visual field loss in patients with Type 2 Usher syndrome. Retina. 2007;27:601-608.
    • (2007) Retina. , vol.27 , pp. 601-608
    • Fishman, G.A.1    Bozbeyoglu, S.2    Massof, R.W.3    Kimberling, W.4
  • 32
    • 2142695183 scopus 로고    scopus 로고
    • Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis
    • Aleman TS, Jacobson SG, Chico JD, et al. Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2004;45:1259-1271.
    • (2004) Invest Ophthalmol Vis Sci. , vol.45 , pp. 1259-1271
    • Aleman, T.S.1    Jacobson, S.G.2    Chico, J.D.3
  • 33
    • 19944430129 scopus 로고    scopus 로고
    • Quantifying rod photoreceptor-mediated vision in retinal degenerations: Darkadapted thresholds as outcome measures
    • Roman AJ, Schwartz SB, Aleman TS, et al. Quantifying rod photoreceptor-mediated vision in retinal degenerations: darkadapted thresholds as outcome measures. Exp Eye Res. 2005; 80:259-272.
    • (2005) Exp Eye Res. , vol.80 , pp. 259-272
    • Roman, A.J.1    Schwartz, S.B.2    Aleman, T.S.3
  • 34
    • 34548804452 scopus 로고    scopus 로고
    • Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials
    • Roman AJ, Cideciyan AV, Aleman TS, Jacobson SG. Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials. Physiol Meas. 2007;28: N51-N56.
    • (2007) Physiol Meas. , vol.28
    • Roman, A.J.1    Cideciyan, A.V.2    Aleman, T.S.3    Jacobson, S.G.4
  • 35
    • 0027284731 scopus 로고
    • Repeated visual acuity measurement: Establishing the patient's own criterion for change
    • Brown B, Lovie-Kitchin J. Repeated visual acuity measurement: establishing the patient's own criterion for change. Optom Vis Sci. 1993;70:45-53.
    • (1993) Optom Vis Sci. , vol.70 , pp. 45-53
    • Brown, B.1    Lovie-Kitchin, J.2
  • 40
    • 0030797799 scopus 로고    scopus 로고
    • Visual acuity scored by the letter-by-letter or probit methods has lower retest variability than the line assignment method
    • Vanden Bosch ME, Wall M. Visual acuity scored by the letter-by-letter or probit methods has lower retest variability than the line assignment method. Eye (Lond). 1997;11:411-417.
    • (1997) Eye (Lond). , vol.11 , pp. 411-417
    • Vanden Bosch, M.E.1    Wall, M.2
  • 41
    • 70350620424 scopus 로고    scopus 로고
    • Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: A phase 1 dose-escalation trial
    • Maguire AM, High KA, Auricchio A, et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet. 2009;374:1597-1605.
    • (2009) Lancet. , vol.374 , pp. 1597-1605
    • Maguire, A.M.1    High, K.A.2    Auricchio, A.3
  • 42
    • 85007302654 scopus 로고    scopus 로고
    • AAV2 gene therapy readministration in three adults with congenital blindness
    • Bennett J, Ashtari M, Wellman J, et al. AAV2 gene therapy readministration in three adults with congenital blindness. Sci Transl Med. 2012;4:120ra15.
    • (2012) Sci Transl Med. , vol.4
    • Bennett, J.1    Ashtari, M.2    Wellman, J.3
  • 43
    • 84871700573 scopus 로고    scopus 로고
    • A microparticle/ hydrogel combination drug-delivery system for sustained release of retinoids
    • Gao S-Q, Maeda T, Okano K, Palczewski K. A microparticle/ hydrogel combination drug-delivery system for sustained release of retinoids. Invest Ophthalmol Vis Sci. 2012;53: 6314-6323.
    • (2012) Invest Ophthalmol Vis Sci. , vol.53 , pp. 6314-6323
    • Gao, S.-Q.1    Maeda, T.2    Okano, K.3    Palczewski, K.4
  • 44
    • 84871283796 scopus 로고    scopus 로고
    • Identification of DES1 as a vitamin A isomerase in M̈uller glial cells of the retina
    • Kaylor JJ, Yuan Q, Cook J, et al. Identification of DES1 as a vitamin A isomerase in M̈uller glial cells of the retina. Nat Chem Biol. 2013;9:30-36.
    • (2013) Nat Chem Biol. , vol.9 , pp. 30-36
    • Kaylor, J.J.1    Yuan, Q.2    Cook, J.3
  • 45
    • 79952578905 scopus 로고    scopus 로고
    • Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: Generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy
    • Cideciyan AV, Rachel RA, Aleman TS, et al. Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. Hum Mol Genet. 2011;20:1411-1423.
    • (2011) Hum Mol Genet. , vol.20 , pp. 1411-1423
    • Cideciyan, A.V.1    Rachel, R.A.2    Aleman, T.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.