-
1
-
-
0002128296
-
Opsin genes, cone photopigments and colour blindness
-
In: Gegenfurtner K, Sharpe LT, eds. Cambridge, UK: Cambridge University Press
-
Sharpe LT, Stockman A, Jagle H, et al. Opsin genes, cone photopigments and colour blindness. In: Gegenfurtner K, Sharpe LT, eds. Color Vision: From Genes to Perception. Cambridge, UK: Cambridge University Press; 1999:3-52.
-
(1999)
Color Vision: From Genes to Perception
, pp. 3-52
-
-
Sharpe, L.T.1
Stockman, A.2
Jagle, H.3
-
2
-
-
34648825477
-
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rodmediated function
-
Khan NW, Wissinger B, Kohl S, Sieving PA. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rodmediated function. Invest Ophthalmol Vis Sci. 2007;48:3864-3871.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 3864-3871
-
-
Khan, N.W.1
Wissinger, B.2
Kohl, S.3
Sieving, P.A.4
-
4
-
-
14944385597
-
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
-
Nishiguchi KM, Sandberg MA, Gorji N, et al. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25:248-258.
-
(2005)
Hum Mutat
, vol.25
, pp. 248-258
-
-
Nishiguchi, K.M.1
Sandberg, M.A.2
Gorji, N.3
-
5
-
-
33646092544
-
Progressive cone and cone-rod dystrophies: Phenotypes and underlying molecular genetic basis
-
Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006;51:232-258.
-
(2006)
Surv Ophthalmol
, vol.51
, pp. 232-258
-
-
Michaelides, M.1
Hardcastle, A.J.2
Hunt, D.M.3
Moore, A.T.4
-
6
-
-
79953735748
-
Progressive loss of cones in achromatopsia: An imaging study using spectral-domain optical coherence tomography
-
Thiadens AA, Somervuo V, van den Born LI, et al. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2010; 51:5952-5957.
-
(2010)
Invest Ophthalmol Vis Sci
, vol.51
, pp. 5952-5957
-
-
Thiadens, A.A.1
Somervuo, V.2
van den Born, L.I.3
-
7
-
-
0034822311
-
CNGA3 mutations in hereditary cone photoreceptor disorders
-
Wissinger B, Gamer D, Jägle H, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69: 722-737.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 722-737
-
-
Wissinger, B.1
Gamer, D.2
Jägle, H.3
-
8
-
-
0034284696
-
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMPgated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
-
Kohl S, Baumann B, Broghammer M, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMPgated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000;9:2107-2116.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2107-2116
-
-
Kohl, S.1
Baumann, B.2
Broghammer, M.3
-
9
-
-
34247146385
-
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
-
Chang B, Dacey MS, Hawes NL, et al. Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci. 2006;47:5017-5021.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 5017-5021
-
-
Chang, B.1
Dacey, M.S.2
Hawes, N.L.3
-
10
-
-
9444251801
-
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
-
Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci. 2004;45:4256-4262.
-
(2004)
Invest Ophthalmol Vis Sci
, vol.45
, pp. 4256-4262
-
-
Rosenberg, T.1
Baumann, B.2
Kohl, S.3
Zrenner, E.4
Jorgensen, A.L.5
Wissinger, B.6
-
11
-
-
68349107942
-
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
-
Thiadens AAHJ, den Hollander AI, Roosing S, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009;85:240-247.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 240-247
-
-
Thiadens, A.A.H.J.1
den Hollander, A.I.2
Roosing, S.3
-
12
-
-
77954166401
-
Gene therapy rescues cone function in congenital achromatopsia
-
Komáromy AM, Alexander JJ, Rowlan JS, et al. Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet. 2010;19:2581-2593.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2581-2593
-
-
Komáromy, A.M.1
Alexander, J.J.2
Rowlan, J.S.3
-
13
-
-
34249987381
-
Restoration of cone vision in a mouse model of achromatopsia
-
Alexander JJ, Umino Y, Everhart D, et al. Restoration of cone vision in a mouse model of achromatopsia. Nat Med. 2007;13:685-687.
-
(2007)
Nat Med
, vol.13
, pp. 685-687
-
-
Alexander, J.J.1
Umino, Y.2
Everhart, D.3
-
14
-
-
79960832400
-
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
-
Carvalho LS, Xu J, Pearson RA, et al. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet. 2011;20:3161-3175.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 3161-3175
-
-
Carvalho, L.S.1
Xu, J.2
Pearson, R.A.3
-
16
-
-
0003602146
-
Demonstration mikroskopischer Präparate von einem monochromatischen Auge [in German]
-
Larsen H. Demonstration mikroskopischer Präparate von einem monochromatischen Auge [in German]. Klin Monatsbl Augenheilkd. 1921;67:301-302.
-
(1921)
Klin Monatsbl Augenheilkd
, vol.67
, pp. 301-302
-
-
Larsen, H.1
-
17
-
-
0001091427
-
Congenital total color blindness: A clinicopathological report
-
Harrison R, Hoefnagel D, Hayward JN. Congenital total color blindness: a clinicopathological report. Arch Ophthalmol. 1960;64:685-692.
-
(1960)
Arch Ophthalmol
, vol.64
, pp. 685-692
-
-
Harrison, R.1
Hoefnagel, D.2
Hayward, J.N.3
-
18
-
-
0013815678
-
Typical total monochromasy: A histological and psychophysical study
-
Falls HF, Wolter R, Alpern M. Typical total monochromasy: a histological and psychophysical study. Arch Ophthalmol. 1965;74: 610-616.
-
(1965)
Arch Ophthalmol
, vol.74
, pp. 610-616
-
-
Falls, H.F.1
Wolter, R.2
Alpern, M.3
-
19
-
-
0016709855
-
Receptors in the monochromat eye
-
Glickstein M, Heath GG. Receptors in the monochromat eye. Vision Res. 1975;15:633-636.
-
(1975)
Vision Res
, vol.15
, pp. 633-636
-
-
Glickstein, M.1
Heath, G.G.2
-
20
-
-
33645388426
-
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism
-
Barthelmes D, Sutter FK, Kurz-Levin MM, et al. Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. Invest Ophthalmol Vis Sci. 2006;47: 1161-1166.
-
(2006)
Invest Ophthalmol Vis Sci
, vol.47
, pp. 1161-1166
-
-
Barthelmes, D.1
Sutter, F.K.2
Kurz-Levin, M.M.3
-
21
-
-
34250201456
-
Optical coherence tomography of the macula in congenital achromatopsia
-
Varsányi B, Somfai GM, Lesch B, Vámos R, Farkas A. Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci. 2007;48:2249-2253.
-
(2007)
Invest Ophthalmol Vis Sci
, vol.48
, pp. 2249-2253
-
-
Varsányi, B.1
Somfai, G.M.2
Lesch, B.3
Vámos, R.4
Farkas, A.5
-
22
-
-
0031260752
-
Supernormal vision and highresolution retinal imaging through adaptive optics
-
Liang JZ, Williams DR, Miller DT. Supernormal vision and highresolution retinal imaging through adaptive optics. J Opt Soc Am A. 1997;14:2884-2892.
-
(1997)
J Opt Soc Am A
, vol.14
, pp. 2884-2892
-
-
Liang, J.Z.1
Williams, D.R.2
Miller, D.T.3
-
23
-
-
77950641363
-
Applications of adaptive optics scanning laser ophthalmoscopy
-
Roorda A. Applications of adaptive optics scanning laser ophthalmoscopy. Optom Vis Sci. 2010;87:260-268.
-
(2010)
Optom Vis Sci
, vol.87
, pp. 260-268
-
-
Roorda, A.1
-
24
-
-
78650602535
-
Adaptive optics retinal imaging: Emerging clinical applications
-
Godara P, Dubis AM, Roorda A, Duncan JL, Carroll J. Adaptive optics retinal imaging: emerging clinical applications. Optom Vis Sci. 2010;87:930-941.
-
(2010)
Optom Vis Sci
, vol.87
, pp. 930-941
-
-
Godara, P.1
Dubis, A.M.2
Roorda, A.3
Duncan, J.L.4
Carroll, J.5
-
25
-
-
55149089278
-
In vivo imaging of the photoreceptor mosaic of a rod monochromat
-
Carroll J, Choi SS, Williams DR. In vivo imaging of the photoreceptor mosaic of a rod monochromat. Vision Res. 2008;48:2564-2568.
-
(2008)
Vision Res
, vol.48
, pp. 2564-2568
-
-
Carroll, J.1
Choi, S.S.2
Williams, D.R.3
-
28
-
-
77949526841
-
Retinal imaging using commercial broadband optical coherence tomography
-
Tanna H, Dubis AM, Ayub N, et al. Retinal imaging using commercial broadband optical coherence tomography. Br J Ophthalmol. 2010;94:372-376.
-
(2010)
Br J Ophthalmol
, vol.94
, pp. 372-376
-
-
Tanna, H.1
Dubis, A.M.2
Ayub, N.3
-
29
-
-
72649102474
-
Variable optical activation of human cone photoreceptors visualized using a short coherence light source
-
Rha J, Schroeder B, Godara P, Carroll J. Variable optical activation of human cone photoreceptors visualized using a short coherence light source. Opt Lett. 2009;34:3782-3784.
-
(2009)
Opt Lett
, vol.34
, pp. 3782-3784
-
-
Rha, J.1
Schroeder, B.2
Godara, P.3
Carroll, J.4
-
30
-
-
84857609754
-
Reflective afocal broadband adaptive optics scanning ophthalmoscope
-
Dubra A, Sulai Y. Reflective afocal broadband adaptive optics scanning ophthalmoscope. Biomed Opt Express. 2011;2:1757-1768.
-
(2011)
Biomed Opt Express
, vol.2
, pp. 1757-1768
-
-
Dubra, A.1
Sulai, Y.2
-
31
-
-
34249693108
-
Automated identification of cone photoreceptors in adaptive optics retinal images
-
Li KY, Roorda A. Automated identification of cone photoreceptors in adaptive optics retinal images. J Opt Soc Am A Opt Image Sci Vis. 2007;24:1358-1363.
-
(2007)
J Opt Soc Am A Opt Image Sci Vis
, vol.24
, pp. 1358-1363
-
-
Li, K.Y.1
Roorda, A.2
-
32
-
-
77950517860
-
Arrested development: High-resolution imaging of foveal morphology in albinism
-
McAllister JT, Dubis AM, Tait DM, et al. Arrested development: high-resolution imaging of foveal morphology in albinism. Vision Res. 2010;50:810-817.
-
(2010)
Vision Res
, vol.50
, pp. 810-817
-
-
McAllister, J.T.1
Dubis, A.M.2
Tait, D.M.3
-
33
-
-
79951564087
-
Clinical value, normative retinal sensitivity values, and intrasession repeatability using a spectral-domain OCT/SLO microperimeter
-
Anastasakis A, McAnany JJ, Fishman GA, Seiple WH. Clinical value, normative retinal sensitivity values, and intrasession repeatability using a spectral-domain OCT/SLO microperimeter. Eye. 2011;25: 245-251.
-
(2011)
Eye
, vol.25
, pp. 245-251
-
-
Anastasakis, A.1
McAnany, J.J.2
Fishman, G.A.3
Seiple, W.H.4
-
34
-
-
68349100283
-
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
-
Thiadens AA, Slingerland NW, Roosing S, et al. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009;116:1984-1989.
-
(2009)
Ophthalmology
, vol.116
, pp. 1984-1989
-
-
Thiadens, A.A.1
Slingerland, N.W.2
Roosing, S.3
-
35
-
-
79955595048
-
Highresolution in vivo imaging in achromatopsia
-
Thomas MG, Kumar A, Kohl S, Proudlock FA, Gottlob I. Highresolution in vivo imaging in achromatopsia. Ophthalmology. 2011;118:882-888.
-
(2011)
Ophthalmology
, vol.118
, pp. 882-888
-
-
Thomas, M.G.1
Kumar, A.2
Kohl, S.3
Proudlock, F.A.4
Gottlob, I.5
-
36
-
-
0031803762
-
Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
-
Kohl S, Marx T, Giddings I, et al. Total colour blindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19: 257-259.
-
(1998)
Nat Genet
, vol.19
, pp. 257-259
-
-
Kohl, S.1
Marx, T.2
Giddings, I.3
-
38
-
-
78751683502
-
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia
-
Grau T, Artemyev NO, Rosenberg T, et al. Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia. Hum Mol Genet. 2011;20:719-730.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 719-730
-
-
Grau, T.1
Artemyev, N.O.2
Rosenberg, T.3
-
39
-
-
79952604754
-
Imaging retinal mosaics in the living eye
-
Rossi EA, Chung M, Dubra A, Hunter JJ, Merigan WH, Williams DR. Imaging retinal mosaics in the living eye. Eye. 2011;25:301-308.
-
(2011)
Eye
, vol.25
, pp. 301-308
-
-
Rossi, E.A.1
Chung, M.2
Dubra, A.3
Hunter, J.J.4
Merigan, W.H.5
Williams, D.R.6
-
40
-
-
82255164373
-
Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope
-
Dubra A, Sulai Y, Norris JL, et al. Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope. Biomed Opt Express. 2011;2:1864-1876.
-
(2011)
Biomed Opt Express
, vol.2
, pp. 1864-1876
-
-
Dubra, A.1
Sulai, Y.2
Norris, J.L.3
-
41
-
-
78650616128
-
Spectral domain optical coherence tomography and adaptive optics: Imaging photoreceptor layer morphology to interpret preclinical phenotypes
-
Rha J, Dubis AM, Wagner-Schuman M, et al. Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypes. Adv Exp Med Biol. 2010;664:309-316.
-
(2010)
Adv Exp Med Biol
, vol.664
, pp. 309-316
-
-
Rha, J.1
Dubis, A.M.2
Wagner-Schuman, M.3
-
42
-
-
77949378551
-
Spectraldomain optical coherence tomography and adaptive optics may detect hydroxychloroquine retinal toxicity before symptomatic vision loss
-
Stepien KE, Han DP, Schell J, Godara P, Rha J, Carroll J. Spectraldomain optical coherence tomography and adaptive optics may detect hydroxychloroquine retinal toxicity before symptomatic vision loss. Trans Am Ophthalmol Soc. 2009;107:28-33.
-
(2009)
Trans Am Ophthalmol Soc
, vol.107
, pp. 28-33
-
-
Stepien, K.E.1
Han, D.P.2
Schell, J.3
Godara, P.4
Rha, J.5
Carroll, J.6
-
43
-
-
0018134895
-
Autosomal recessive incomplete achromatopsia with protan luminosity function
-
Smith VC, Pokorny J, Newell FW. Autosomal recessive incomplete achromatopsia with protan luminosity function. Ophthalmologica. 1978;177:197-207.
-
(1978)
Ophthalmologica
, vol.177
, pp. 197-207
-
-
Smith, V.C.1
Pokorny, J.2
Newell, F.W.3
-
44
-
-
34147118600
-
Achromatopsia: The CNGB3 p. T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
-
Wiszniewski W, Lewis RA, Lupski JR. Achromatopsia: the CNGB3 p. T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007;121:433-439.
-
(2007)
Hum Genet
, vol.121
, pp. 433-439
-
-
Wiszniewski, W.1
Lewis, R.A.2
Lupski, J.R.3
-
45
-
-
79953134852
-
Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment
-
Talcott KE, Ratnam K, Sundquist SM, et al. Longitudinal study of cone photoreceptors during retinal degeneration and in response to ciliary neurotrophic factor treatment. Invest Ophthalmol Vis Sci. 2011;52:2219-2226.
-
(2011)
Invest Ophthalmol Vis Sci
, vol.52
, pp. 2219-2226
-
-
Talcott, K.E.1
Ratnam, K.2
Sundquist, S.M.3
|