A prospective longitudinal study of retinal structure and function in achromatopsia.

scientific article

A prospective longitudinal study of retinal structure and function in achromatopsia. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1167/IOVS.14-14937
P932PMC publication ID4161486
P698PubMed publication ID25103266
P5875ResearchGate publication ID264629908

P50authorMarko NardiniQ40618257
James W. BainbridgeQ42292899
Alfredo DubraQ62348869
Adam M DubisQ92993068
Michel MichaelidesQ96350250
Jonathan AboshihaQ125030865
Jill CowingQ125030882
Venki SundaramQ125030885
P2093author name stringJoseph Carroll
Gary Rubin
Anthony T Moore
Andrew R Webster
Robin R Ali
Rachel T A Fahy
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Gene therapy rescues cone function in congenital achromatopsiaQ24595787
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3Q24675950
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseasesQ28235111
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11Q28280933
Restoration of cone vision in a mouse model of achromatopsiaQ28509747
CNTF and retinaQ28731691
Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor functionQ30497586
Autofluorescence characteristics of normal foveas and reconstruction of foveal autofluorescence from limited data subsetsQ30996508
Modelling the natural history of geographic atrophy in patients with age-related macular degenerationQ33227050
Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatismQ33234971
Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degenerationQ33269883
Fundus autofluorescence imaging: review and perspectivesQ33323023
The association between percent disruption of the photoreceptor inner segment-outer segment junction and visual acuity in diabetic macular edemaQ33976725
Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope.Q33990304
Electroretinograms in patients with achromatopsiaQ34692218
Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapyQ35119686
Photoreceptor structure and function in patients with congenital achromatopsia.Q35247580
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Q35581056
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).Q35591473
The cone dysfunction syndromesQ35635184
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsiaQ36439306
In vivo imaging of the photoreceptor mosaic of a rod monochromatQ36970047
A comparison of fundus autofluorescence and retinal structure in patients with Stargardt diseaseQ37358982
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C geneQ37429002
Retinal structure and function in achromatopsia: implications for gene therapy.Q37492242
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.Q39860702
Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.Q40160304
Optical coherence tomography of the macula in congenital achromatopsiaQ40219544
Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomographyQ43158631
Disruption of the photoreceptor inner segment/outer segment layer on spectral domain-optical coherence tomography is a predictor of poor visual acuity in patients with epiretinal membranesQ43206115
Diagnostic fundus autofluorescence patterns in achromatopsia.Q44573585
Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathyQ44743301
Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.Q45880449
Genetic etiology and clinical consequences of complete and incomplete achromatopsia.Q45932463
Reproducibility of retinal thickness measurements in healthy subjects using spectralis optical coherence tomographyQ46233436
High-resolution in vivo imaging in achromatopsia.Q51734374
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.Q53471480
Spatial and temporal limits of vision in the achromatQ68797212
In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristicsQ72631037
Fixation stability measurement using the MP1 microperimeterQ83429687
P433issue9
P407language of work or nameEnglishQ1860
P304page(s)5733-5743
P577publication date2014-08-07
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleA prospective longitudinal study of retinal structure and function in achromatopsia
P478volume55

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cites work (P2860)
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Q92255268Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa
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