Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease

scientific article

Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1167/IOVS.10-6538
P932PMC publication ID3109028
P698PubMed publication ID21296825
P5875ResearchGate publication ID49813144

P50authorRadha AyyagariQ92441786
Brandon J. LujanQ117802081
Harini V. GudisevaQ130317930
P2093author name stringAustin Roorda
Jacque L Duncan
Kavitha Ratnam
Sanna M Sundquist
Yingming Chen
P2860cites workThe photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)Q28114964
Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt diseaseQ28138732
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout miceQ28140171
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR geneQ28141700
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophyQ28248393
Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degenerationQ28505587
A2E, a byproduct of the visual cycleQ28609934
Reproducibility of fundus autofluorescence measurements obtained using a confocal scanning laser ophthalmoscopeQ30712714
Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutationQ30853128
Quantitative evaluation of fundus autofluorescence imaged "in vivo" in eyes with retinal diseaseQ30883183
Fundus autofluorescence in Stargardt macular dystrophy-fundus flavimaculatusQ33204453
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Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosaQ33215435
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High-resolution imaging with adaptive optics in patients with inherited retinal degenerationQ33288807
Evaluation of autofluorescence imaging with the scanning laser ophthalmoscope and the fundus camera in age-related geographic atrophyQ33339189
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical dataQ33431727
Analysis of retinal flecks in fundus flavimaculatus using high-definition spectral-domain optical coherence tomographyQ33616958
The dark choroid in posterior retinal dystrophiesQ33641154
The arrangement of the three cone classes in the living human eye.Q33852770
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Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindnessQ34321474
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Spectral domain optical coherence tomography and adaptive optics: imaging photoreceptor layer morphology to interpret preclinical phenotypesQ36239260
Distribution of fundus autofluorescence with a scanning laser ophthalmoscopeQ36687458
In vivo fundus autofluorescence in macular dystrophiesQ36861051
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerationsQ36965608
In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual functionQ36973449
ABCA4 disease progression and a proposed strategy for gene therapyQ37092442
Retinal function and loss of autofluorescence in stargardt diseaseQ37184384
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Lipofuscin and autofluorescence metrics in progressive STGD.Q37408138
Peripapillary dark choroid ring as a helpful diagnostic sign in advanced stargardt diseaseQ37688582
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequenceQ40539527
Histopathology and immunocytochemistry of the neurosensory retina in fundus flavimaculatus.Q40674593
A2E, a lipofuscin fluorophore, in human retinal pigmented epithelial cells in culture.Q40919605
Long-term follow-up of Stargardt's disease and fundus flavimaculatusQ41719920
Functional consequences of the relative numbers of L and M conesQ41723779
The density recovery profile: a method for the analysis of points in the plane applicable to retinal studiesQ41813005
Packing arrangement of the three cone classes in primate retinaQ43588716
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degenerationQ43723387
Fundus autofluorescence and age-related macular degenerationQ44309998
Optical fiber properties of individual human conesQ44392243
The reflectance of single cones in the living human eye.Q44595317
Comparing rod and cone function with fundus autofluorescence images in retinitis pigmentosa.Q44923590
Autosomal-dominant fundus flavimaculatus. Clinicopathologic correlationQ46453340
Fundus autofluorescence in children and teenagers with hereditary retinal diseasesQ46611248
Correlation of visual function impairment and OCT findings in patients with Stargardt disease and fundus flavimaculatusQ46718400
Fundus autofluorescence imaging of retinal dystrophiesQ46741886
ISCEV Standard for full-field clinical electroretinography (2008 update).Q47217837
The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells.Q50511473
Lipofuscin is a photoinducible free radical generator.Q50780961
Cell loss in the aging retina. Relationship to lipofuscin accumulation and macular degeneration.Q52525243
Visual acuity loss and clinical observations in a large series of patients with Stargardt disease.Q53650290
Visualization of Lipofuscin Accumulation in Stargardt Macular Dystrophy by High-Resolution Fourier-Domain Optical Coherence TomographyQ58597300
Phenotypic Subtypes of Stargardt Macular Dystrophy–Fundus FlavimaculatusQ59305694
Age-related Macular DegenerationQ59487848
Histopathology of Incipient Fundus FlavimaculatusQ67935526
[Evaluation of the desaturated Panel D-15. I. Method of quantification and normal scores]Q68994320
Visual acuity loss in patients with Stargardt's macular dystrophyQ69407310
The formation of autofluorescent granules in cultured human RPEQ69939433
Fundus flavimaculatus without maculopathy. A clinicopathologic studyQ70021349
In vivo measurement of lipofuscin in Stargardt's disease--Fundus flavimaculatusQ71741579
A method for quantitative scoring of the Farnsworth Panel D-15Q72122724
In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristicsQ72631037
Retinal pigment epithelial abnormalities in fundus flavimaculatus: a light and electron microscopic studyQ72637349
Intrafamilial variation of phenotype in Stargardt macular dystrophy-Fundus flavimaculatusQ73049083
Autofluorescence distribution associated with drusen in age-related macular degenerationQ73437282
An analysis of allelic variation in the ABCA4 geneQ73819654
Aberrations and retinal image quality of the normal human eyeQ73900801
Supernormal vision and high-resolution retinal imaging through adaptive opticsQ73900804
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophyQ73977116
Photodamage to human RPE cells by A2-E, a retinoid component of lipofuscinQ73991053
Inhibition of lysosomal degradative functions in RPE cells by a retinoid component of lipofuscinQ74586647
Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlationQ74645888
P433issue6
P407language of work or nameEnglishQ1860
P921main subjectvision lossQ507787
Stargardt diseaseQ1317319
photoreceptor proteinQ7187894
P304page(s)3281-3292
P577publication date2011-05-17
P1433published inInvestigative Ophthalmology Visual ScienceQ6060707
P1476titleCone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease
P478volume52

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cites work (P2860)
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Q37276434eyeGENE®: a vision community resource facilitating patient care and paving the path for research through molecular diagnostic testing

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