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Investigative ophthalmology & visual science, ISSN 1552-5783, 07/2019, Volume 60, Issue 8, pp. 3046 - 3053
Accumulation of lysosomal waste is linked to neurodegeneration in multiple diseases, and pharmacologic enhancement of lysosomal activity is hypothesized to... 
retinal dystrophy | Physiology and Pharmacology | protection | drug delivery | lysosome | ABCA4
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 10, pp. 2336 - 2344
Variants in the ABCA4 gene are causal for a variety of retinal dystrophy phenotypes, including Stargardt disease (STGD1). However, 15% of patients who present... 
retinal dystrophy | collapsing analysis | exome sequencing | ABCA4 disease
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 03/2018, Volume 59, Issue 4, pp. AMD122 - AMD131
PURPOSE. To investigate the choroidal blood flow in areas within and adjacent to retinal pigment epithelium (RPE) atrophy secondary to late-onset Stargardt... 
CHORIOCAPILLARIS | geographic atrophy | QUANTITATIVE FUNDUS AUTOFLUORESCENCE | optical coherence tomography angiography | SPECTRAL-DOMAIN | ABCA4 | DARK ATROPHY | GENE | retina | AMD | ABCA4 DISEASE | OPHTHALMOLOGY | INDOCYANINE GREEN ANGIOGRAPHY | SWEPT-SOURCE | PROGRESSION
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 06/2016, Volume 57, Issue 7, pp. 3257 - 3267
Journal Article
Ophthalmology in China, ISSN 1004-4469, 07/2016, Volume 25, Issue 4, pp. 219 - 224
Journal Article
by Hu, FY and Li, JK and Gao, FJ and Qi, YH and Xu, P and Zhang, YJ and Wang, DD and Wang, LS and Li, W and Wang, M and Chen, F and Shen, SM and Xu, GZ and Zhang, SH and Chang, Q and Wu, JH
FRONTIERS IN GENETICS, ISSN 1664-8021, 09/2019, Volume 10
Purpose: To clarify the mutation spectrum and frequency of ABCA4 in a Chinese cohort with Stargardt disease (STGD1). Methods: A total of 153 subjects,... 
mutation spectrum | next-generation sequencing | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | RECESSIVE RETINITIS-PIGMENTOSA | variant frequency | CASSETTE TRANSPORTER ABCA4 | STGD1 | MUTATIONS | ABCA4 gene
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 10/2019, Volume 519, Issue 1, pp. 46 - 52
The human retina-specific ATP binding cassette transporter, ABCA4, plays a significant role in the visual cycle. Mutations in the ABCA4 gene result in a broad... 
VFVNFA motif | Macular degeneration | Fluorescence resonance energy transfer | Stargardt disease | ABC transporter | ABCA4
Journal Article
Archivos de la Sociedad Espanola de Oftalmologia, ISSN 0365-6691, 03/2018, Volume 93, Issue 3, pp. 119 - 125
Introduction: Stargardt‘s disease is the most frequent form of inherited macular dystrophy in children and adults. It is a genetic eye disorder caused by... 
Next generation sequencing (NGS) | ABCA4 | Stardgardt's disease
Journal Article
Journal Article
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2018, Volume 39, Issue 5, pp. 555 - 559
Background: High intake of vitamin A is suspected to be a risk factor for the progression of Stargardt disease (STGD1) and many health authorities recommend... 
vitamin A | Stargardt disease | ALK001 | ABCA4 | FUNDUS AUTOFLUORESCENCE | PHENOTYPE | CASSETTE TRANSPORTER ABCA4 | DYSTROPHY | MOUSE MODEL | GENETICS & HEREDITY | OPHTHALMOLOGY | ACCUMULATION | RETINITIS-PIGMENTOSA
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2018, Volume 14, Issue 8, p. e1007504
Journal Article