Abstract
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Emily J. Patterson, Christopher S. Langlo, Michalis Georgiou, Angelos Kalitzeos, Mark E. Pennesi, Alison J. Hardcastle, Michel Michaelides, Joseph Carroll
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Abstract
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Monochromatism
10.1038/154466b0 · 1944
Congenital color vision defects
1977
Congenital color defects
1979
Electroretinograms in patients with achromatopsia
10.1111/j.1755-3768.1991.tb02048.x · 2009
Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia
10.1086/341835 · 2002
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
10.1016/j.ajhg.2009.06.016 · 2009
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
10.1016/j.ajhg.2012.07.006 · 2012
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
10.1002/humu.23920 · 2020
Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status
10.1097/00006324-199607000-00001 · 1996
Clinical vision characteristics of the congenital achromatopsias. II. Color vision
10.1097/00006324-199607000-00002 · 1996
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism
10.1167/iovs.05-0783 · 2006
Eye movement abnormalities in rod monochromatism and blue-cone monochromatism
10.1007/bf02150944 · 1985
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)
10.1136/bjo.87.11.1317 · 2003
Deep phenotyping of PDE6C-associated achromatopsia
10.1167/iovs.19-27761 · 2019
Congenital achromatopsia: a report of 19 cases
10.1364/josa.44.000117 · 1954
Color plates to help identify patients with blue cone monochromatism
10.1016/0002-9394(83)90058-2 · 1983
Berson test for blue cone monochromatism
10.1007/bf00916439 · 1992
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
10.1167/iovs.12-11087 · 2012
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
10.1089/hum.2013.153 · 2013
Blue cone monochromacy caused by the C203R missense mutation or large deletion mutations
10.1167/iovs.18-25280 · 2018
Retinal structure and function in achromatopsia
10.1016/j.ophtha.2013.08.017 · 2014
Residual foveal cone structure in CNGB3-associated achromatopsia
10.1167/iovs.16-19313 · 2016
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography
10.1167/iovs.10-5680 · 2010
Adaptive optics retinal imaging in CNGA3-associated achromatopsia: retinal characterization, interocular symmetry, and intrafamilial variability
10.1167/iovs.18-25880 · 2019
Retinal imaging using commercial broadband optical coherence tomography
10.1136/bjo.2009.163501 · 2010
Retinal imaging of infants on spectral domain optical coherence tomography
10.1155/2015/782420 · 2015
The morphological development of the human fovea
10.1016/s0161-6420(84)34247-6 · 1984
Dynamics of human foveal development after premature birth
10.1016/j.ophtha.2011.05.028 · 2011
The role of opsin expression and apoptosis in determination of cone types in human retina
10.1016/j.exer.2004.01.004 · 2004
Development of cone photoreceptors and their synapses in the human and monkey fovea
10.1002/cne.24170 · 2019
Foveal cavitation as an optical coherence tomography finding in central cone dysfunction
10.1097/iae.0b013e318236e4ea · 2012
Multimodal imaging of foveal cavitation in retinal dystrophies
10.1007/s00417-016-3450-7 · 2017
Facts of color-blindness
10.1364/josa.33.000294 · 1943
Molecular genetics of human blue cone monochromacy
10.1126/science.2788922 · 1989
Blue cone monochromacy: causative mutations and associated phenotypes
2009
No additional external references are available.