-
1
-
-
0002468579
-
Fundus flavimaculatus
-
In: Newsome DA, ed. New York, NY: Raven Press
-
Blacharski PA. Fundus flavimaculatus. In: Newsome DA, ed. Retinal Dystrophies and Degenerations. New York, NY: Raven Press; 1988:135-159.
-
(1988)
Retinal Dystrophies and Degenerations
, pp. 135-159
-
-
Blacharski, P.A.1
-
2
-
-
0031037951
-
A photoreceptor cellspecific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
-
Allikmets R, Singh N, Sun H, et al. A photoreceptor cellspecific 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
-
3
-
-
14944354898
-
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene
-
Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefes Arch Clin Exp Ophthalmol. 2005; 243:90-100.
-
(2005)
Graefes Arch Clin Exp Ophthalmol.
, vol.243
, pp. 90-100
-
-
Klevering, B.J.1
Deutman, A.F.2
Maugeri, A.3
Cremers, F.P.4
Hoyng, C.B.5
-
4
-
-
0038348753
-
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy
-
Fishman GA, Stone EM, Eliason DA, Taylor CM, Lindeman M, Derlacki DJ. ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. Arch Ophthalmol. 2003;121:851-855.
-
(2003)
Arch Ophthalmol.
, vol.121
, pp. 851-855
-
-
Fishman, G.A.1
Stone, E.M.2
Eliason, D.A.3
Taylor, C.M.4
Lindeman, M.5
Derlacki, D.J.6
-
5
-
-
36749074541
-
ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy
-
Michaelides M, Chen LL, Brantley MA Jr, et al. ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy. Br J Ophthalmol. 2007; 91:1650-1655.
-
(2007)
Br J Ophthalmol.
, vol.91
, pp. 1650-1655
-
-
Michaelides, M.1
Chen, L.L.2
Brantley Jr., M.A.3
-
6
-
-
6844259885
-
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
-
Cremers FP, van de Pol DJ, van Driel M, et al. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Hum Mol Genet. 1998;7:355-362.
-
(1998)
Hum Mol Genet.
, vol.7
, pp. 355-362
-
-
Cremers, F.P.1
van de Pol, D.J.2
van Driel, M.3
-
7
-
-
0012119330
-
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
-
8
-
-
84861130906
-
A subgroup of age-related macular degeneration is associated with monoallelic sequence variants in the ABCA4 gene
-
Fritsche LG, Fleckenstein M, Fiebig BS, et al. A subgroup of age-related macular degeneration is associated with monoallelic sequence variants in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2012;53:2112-2128.
-
(2012)
Invest Ophthalmol Vis Sci.
, vol.53
, pp. 2112-2128
-
-
Fritsche, L.G.1
Fleckenstein, M.2
Fiebig, B.S.3
-
11
-
-
0019289924
-
Retinal pigment epithelial abnormalities in fundus flavimaculatus: A light and electron microscopic study
-
Eagle RC Jr, Lucier AC, Bernardino VB Jr, Yanoff M. Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic study. Ophthalmology. 1980; 87:1189-1200.
-
(1980)
Ophthalmology.
, vol.87
, pp. 1189-1200
-
-
Eagle Jr., R.C.1
Lucier, A.C.2
Bernardino Jr., V.B.3
Yanoff, M.4
-
12
-
-
0037656046
-
The gene for Stargardt disease, ABCA4, is a major retinal gene: A mini-review
-
Koenekoop RK. The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review. Ophthalmic Genet. 2003;24: 75-80.
-
(2003)
Ophthalmic Genet.
, vol.24
, pp. 75-80
-
-
Koenekoop, R.K.1
-
13
-
-
0038321461
-
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
-
Rotenstreich Y, Fishman GA, Anderson RJ. Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology. 2003;110:1151-1158.
-
(2003)
Ophthalmology.
, vol.110
, pp. 1151-1158
-
-
Rotenstreich, Y.1
Fishman, G.A.2
Anderson, R.J.3
-
15
-
-
3042839168
-
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus
-
Lois N, Halfyard AS, Bird AC, Holder GE, Fitzke FW. Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatus. Am J Ophthalmol. 2004;138:55-63.
-
(2004)
Am J Ophthalmol.
, vol.138
, pp. 55-63
-
-
Lois, N.1
Halfyard, A.S.2
Bird, A.C.3
Holder, G.E.4
Fitzke, F.W.5
-
16
-
-
64649085067
-
Lipofuscin-and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies
-
Kellner S, Kellner U, Weber BH, Fiebig B, Weinitz S, Ruether K. Lipofuscin-and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophies. Am J Ophthalmol. 2009;147:895-902.
-
(2009)
Am J Ophthalmol.
, vol.147
, pp. 895-902
-
-
Kellner, S.1
Kellner, U.2
Weber, B.H.3
Fiebig, B.4
Weinitz, S.5
Ruether, K.6
-
17
-
-
19944408329
-
Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography
-
Ergun E, Hermann B, Wirtitsch M, et al. Assessment of central visual function in Stargardt's disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci. 2005;46:310-316.
-
(2005)
Invest Ophthalmol Vis Sci.
, vol.46
, pp. 310-316
-
-
Ergun, E.1
Hermann, B.2
Wirtitsch, M.3
-
18
-
-
34247139151
-
Visualization of lipofuscin accumulation in Stargardt macular dystrophy by high-resolution Fourier-domain optical coherence tomography
-
Gerth C, Zawadzki RJ, Choi SS, Keltner JL, Park SS, Werner JS. Visualization of lipofuscin accumulation in Stargardt macular dystrophy by high-resolution Fourier-domain optical coherence tomography. Arch Ophthalmol. 2007;125:575.
-
(2007)
Arch Ophthalmol.
, vol.125
, pp. 575
-
-
Gerth, C.1
Zawadzki, R.J.2
Choi, S.S.3
Keltner, J.L.4
Park, S.S.5
Werner, J.S.6
-
19
-
-
49749107861
-
A pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients
-
Lim JI, Tan O, Fawzi AA, Hopkins JJ, Gil-Flamer JH, Huang D. A pilot study of Fourier-domain optical coherence tomography of retinal dystrophy patients. Am J Ophthalmol. 2008;146: 417-426.
-
(2008)
Am J Ophthalmol.
, vol.146
, pp. 417-426
-
-
Lim, J.I.1
Tan, O.2
Fawzi, A.A.3
Hopkins, J.J.4
Gil-Flamer, J.H.5
Huang, D.6
-
20
-
-
77956059871
-
Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography
-
Voigt M, Querques G, Atmani K, et al. Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomography. Am J Ophthalmol. 2010;150: 330-337.
-
(2010)
Am J Ophthalmol.
, vol.150
, pp. 330-337
-
-
Voigt, M.1
Querques, G.2
Atmani, K.3
-
21
-
-
84863738695
-
Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: Implications for gene therapy
-
Testa F, Rossi S, Sodi A, et al. Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci. 2012;53:4409-4415.
-
(2012)
Invest Ophthalmol Vis Sci.
, vol.53
, pp. 4409-4415
-
-
Testa, F.1
Rossi, S.2
Sodi, A.3
-
22
-
-
68349108001
-
A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease
-
Gomes NL, Greenstein VC, Carlson JN, et al. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2009;50:3953-3959.
-
(2009)
Invest Ophthalmol Vis Sci.
, vol.50
, pp. 3953-3959
-
-
Gomes, N.L.1
Greenstein, V.C.2
Carlson, J.N.3
-
23
-
-
77951244321
-
Imaging of the retinal pigment epithelium in age-related macular degeneration using polarization sensitive optical coherence tomography
-
Ahlers C, Götzinger E, Pircher M, et al. Imaging of the retinal pigment epithelium in age-related macular degeneration using polarization sensitive optical coherence tomography. Invest Ophthalmol Vis Sci. 2010;51:2149-2157.
-
(2010)
Invest Ophthalmol Vis Sci.
, vol.51
, pp. 2149-2157
-
-
Ahlers, C.1
Götzinger, E.2
Pircher, M.3
-
24
-
-
38949171400
-
Value of polarization sensitive optical coherence tomography in diseases affecting the retinal pigment epithelium
-
Michels S, Pircher M, Geitzenauer W, et al. Value of polarization sensitive optical coherence tomography in diseases affecting the retinal pigment epithelium. Br J Ophthalmol. 2008;92:204-209.
-
(2008)
Br J Ophthalmol.
, vol.92
, pp. 204-209
-
-
Michels, S.1
Pircher, M.2
Geitzenauer, W.3
-
25
-
-
79955943975
-
Segmentation and quantification of retinal lesions in age-related macular degeneration using polarization-sensitive optical coherence tomography
-
Baumann B, Götzinger E, Pircher M, et al. Segmentation and quantification of retinal lesions in age-related macular degeneration using polarization-sensitive optical coherence tomography. J Biomed Opt. 2010;15:061704.
-
(2010)
J Biomed Opt.
, vol.15
, pp. 061704
-
-
Baumann, B.1
Götzinger, E.2
Pircher, M.3
-
26
-
-
84856602092
-
Morphologic characteristics of idiopathic juxtafoveal telangiectasia using spectraldomain and polarization-sensitive optical coherence tomography
-
Schütze C, Ahlers C, Pircher M, et al. Morphologic characteristics of idiopathic juxtafoveal telangiectasia using spectraldomain and polarization-sensitive optical coherence tomography. Retina. 2012;32:256-264.
-
(2012)
Retina.
, vol.32
, pp. 256-264
-
-
Schütze, C.1
Ahlers, C.2
Pircher, M.3
-
27
-
-
80052370664
-
Performance of automated drusen detection by polarization-sensitive optical coherence tomography
-
Schlanitz FG, Baumann B, Spalek T, et al. Performance of automated drusen detection by polarization-sensitive optical coherence tomography. Invest Ophthalmol Vis Sci. 2011;52: 4571-4579.
-
(2011)
Invest Ophthalmol Vis Sci.
, vol.52
, pp. 4571-4579
-
-
Schlanitz, F.G.1
Baumann, B.2
Spalek, T.3
-
28
-
-
84862884600
-
Foveal cavitation as an optical coherence tomography finding in central cone dysfunction
-
Leng T, Marmor MF, Kellner U, et al. Foveal cavitation as an optical coherence tomography finding in central cone dysfunction. Retina. 2012;32:1411-1419.
-
(2012)
Retina.
, vol.32
, pp. 1411-1419
-
-
Leng, T.1
Marmor, M.F.2
Kellner, U.3
-
29
-
-
84869118483
-
Large-field high-speed polarization sensitive spectral domain OCTand its applications in ophthalmology
-
Zotter S, Pircher M, Torzicky T, et al. Large-field high-speed polarization sensitive spectral domain OCTand its applications in ophthalmology. Biomed Opt Express. 2012;3:2720-2732.
-
(2012)
Biomed Opt Express.
, vol.3
, pp. 2720-2732
-
-
Zotter, S.1
Pircher, M.2
Torzicky, T.3
-
30
-
-
0032900958
-
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
-
31
-
-
59049100882
-
ISCEV standard for full-field clinical electroretinography (2008 update)
-
Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118:69-77.
-
(2009)
Doc Ophthalmol.
, vol.118
, pp. 69-77
-
-
Marmor, M.F.1
Fulton, A.B.2
Holder, G.E.3
Miyake, Y.4
Brigell, M.5
Bach, M.6
-
32
-
-
34247623697
-
ISCEV standard for clinical pattern electroretinography-2007 update
-
Holder GE, Brigell MG, Hawlina M, et al. ISCEV standard for clinical pattern electroretinography-2007 update. Doc Ophthalmol. 2007;114:111-116.
-
(2007)
Doc Ophthalmol.
, vol.114
, pp. 111-116
-
-
Holder, G.E.1
Brigell, M.G.2
Hawlina, M.3
-
33
-
-
0035092144
-
Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
-
Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol. 2001;119:359-369.
-
(2001)
Arch Ophthalmol.
, vol.119
, pp. 359-369
-
-
Lois, N.1
Holder, G.E.2
Bunce, C.3
Fitzke, F.W.4
Bird, A.C.5
-
34
-
-
54249108911
-
Retinal pigment epithelium segmentation by polarization sensitive optical coherence tomography
-
Götzinger E, Pircher M, Geitzenauer W, et al. Retinal pigment epithelium segmentation by polarization sensitive optical coherence tomography. Opt Express. 2008;16:16410-16422.
-
(2008)
Opt Express.
, vol.16
, pp. 16410-16422
-
-
Götzinger, E.1
Pircher, M.2
Geitzenauer, W.3
-
35
-
-
33846860376
-
Human macula investigated in vivo with polarization-sensitive optical coherence tomography
-
Pircher M, Götzinger E, Findl O, et al. Human macula investigated in vivo with polarization-sensitive optical coherence tomography. Invest Ophthalmol Vis Sci. 2006;47:5487-5494.
-
(2006)
Invest Ophthalmol Vis Sci.
, vol.47
, pp. 5487-5494
-
-
Pircher, M.1
Götzinger, E.2
Findl, O.3
-
36
-
-
28944449054
-
High speed spectral domain polarization sensitive optical coherence tomography of the human retina
-
Götzinger E, Pircher M, Hitzenberger CK. High speed spectral domain polarization sensitive optical coherence tomography of the human retina. Opt Express. 2005;13:10217-10229.
-
(2005)
Opt Express.
, vol.13
, pp. 10217-10229
-
-
Götzinger, E.1
Pircher, M.2
Hitzenberger, C.K.3
-
37
-
-
84863950234
-
Polarization sensitive optical coherence tomography of melanin provides intrinsic contrast based on depolarization
-
Baumann B, Baumann SO, Konegger T, et al. Polarization sensitive optical coherence tomography of melanin provides intrinsic contrast based on depolarization. Biomed Opt Express. 2012;3:1670-1683.
-
(2012)
Biomed Opt Express.
, vol.3
, pp. 1670-1683
-
-
Baumann, B.1
Baumann, S.O.2
Konegger, T.3
-
38
-
-
77955151784
-
Mutation Taster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. Mutation Taster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575-576.
-
(2010)
Nat Methods.
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
39
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11:377-394.
-
(2004)
J Comput Biol.
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
40
-
-
60549112570
-
ABCA4 disease progression and a proposed strategy for gene therapy
-
Cideciyan AV, Swider M, Aleman TS, et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009;18:931-941.
-
(2009)
Hum Mol Genet.
, vol.18
, pp. 931-941
-
-
Cideciyan, A.V.1
Swider, M.2
Aleman, T.S.3
-
41
-
-
31644448419
-
Errors in retinal thickness measurements obtained by optical coherence tomography
-
Sadda SR, Wu Z, Walsh AC, et al. Errors in retinal thickness measurements obtained by optical coherence tomography. Ophthalmology. 2006;113:285-293.
-
(2006)
Ophthalmology.
, vol.113
, pp. 285-293
-
-
Sadda, S.R.1
Wu, Z.2
Walsh, A.C.3
-
42
-
-
0001582349
-
Organization of the primate retina: Light microscopy
-
Boycott BB, Dowling JE. Organization of the primate retina: light microscopy. Phil Trans R Soc Lond B. 1969;255:109-184.
-
(1969)
Phil Trans R Soc Lond B.
, vol.255
, pp. 109-184
-
-
Boycott, B.B.1
Dowling, J.E.2
-
43
-
-
0027982045
-
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus
-
Birnbach CD, Jarvelainen M, Possin DE, Milam AH. Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus. Ophthalmology. 1994;101:1211-1219.
-
(1994)
Ophthalmology.
, vol.101
, pp. 1211-1219
-
-
Birnbach, C.D.1
Jarvelainen, M.2
Possin, D.E.3
Milam, A.H.4
-
45
-
-
84873392863
-
The dark atrophy with indocyanine green angiography in Stargardt disease
-
Giani A, Pellegrini M, Carini E, Peroglio Deiro A, Bottoni F, Staurenghi G. The dark atrophy with indocyanine green angiography in Stargardt disease. Invest Ophthalmol Vis Sci. 2012;53:3999-4004.
-
(2012)
Invest Ophthalmol Vis Sci.
, vol.53
, pp. 3999-4004
-
-
Giani, A.1
Pellegrini, M.2
Carini, E.3
Peroglio Deiro, A.4
Bottoni, F.5
Staurenghi, G.6
-
46
-
-
33644791067
-
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
-
Cideciyan AV, Swider M, Aleman TS, et al. ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina. Invest Ophthalmol Vis Sci. 2005; 46:4739-4746.
-
(2005)
Invest Ophthalmol Vis Sci.
, vol.46
, pp. 4739-4746
-
-
Cideciyan, A.V.1
Swider, M.2
Aleman, T.S.3
-
47
-
-
84855171364
-
Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1)
-
Burke TR, Rhee DW, Smith RT, et al. Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1). Invest Ophthalmol Vis Sci. 2011;52:8006-8015.
-
(2011)
Invest Ophthalmol Vis Sci.
, vol.52
, pp. 8006-8015
-
-
Burke, T.R.1
Rhee, D.W.2
Smith, R.T.3
-
48
-
-
78049512311
-
Loss of peripapillary sparing in non-group I Stargardt disease
-
Burke TR, Allikmets R, Smith RT, Gouras P, Tsang SH. Loss of peripapillary sparing in non-group I Stargardt disease. Exp Eye Res. 2010;91:592-600.
-
(2010)
Exp Eye Res.
, vol.91
, pp. 592-600
-
-
Burke, T.R.1
Allikmets, R.2
Smith, R.T.3
Gouras, P.4
Tsang, S.H.5
|