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Ophthalmology in China, ISSN 1004-4469, 07/2016, Volume 25, Issue 4, pp. 219 - 224
Journal Article
Biochemical and biophysical research communications, 08/2019
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... 
Index Medicus
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 04/2019, Volume 60, Issue 5, pp. 1547 - 1555
PURPOSE. To evaluate the disease progression in patients with clinical and genetic diagnoses of choroideremia during a long-term follow-up and to investigate... 
GENE | choroideremia | USHER-SYNDROME | genotype-phenotype correlation | visual acuity | STARGARDT DISEASE | OPHTHALMOLOGY | visual field | longitudinal study | PROGRESSION | FEATURES | Index Medicus
Journal Article
British Journal of Pharmacology, ISSN 0007-1188, 03/2019, Volume 176, Issue 6, pp. 801 - 813
Background and Purpose Currently available treatments do not halt progression of photoreceptor death and subsequent visual impairment related to retinal... 
DRUG | NADPH OXIDASE | APOPTOSIS | RAT | IN-VIVO | STARGARDT DISEASE | PHARMACOLOGY & PHARMACY | PROLIFERATIVE VITREORETINOPATHY | RECEPTORS | CELL-DEATH | DEGENERATION
Journal Article
JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS, ISSN 0022-3565, 02/2018, Volume 364, Issue 2, pp. 207 - 220
Degeneration of retinal photoreceptor cells can arise from environmental and/or genetic causes. Since photoreceptor cells, the retinal pigment epithelium(RPE),... 
RETINAL DEGENERATION | S-CONE | PHAGOCYTOSIS | BROMOCRIPTINE | STARGARDT DISEASE | MACULAR DEGENERATION | RETINOPATHY | PHARMACOLOGY & PHARMACY | MICE | BLOOD-BRAIN-BARRIER | DISPOSITION
Journal Article
Journal of clinical medicine, ISSN 2077-0383, 09/2019, Volume 8, Issue 9, p. 1388
To identify different choroidal patterns in Stargardt disease (STGD) and to assess their clinical correlates. 100 STGD eyes (29 males; mean age 42.6 ± 16.5... 
choroid | OCT | Stargardt disease | OCTA | Sattler layer | Haller layer
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 404 - 412
Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of phenotypes from early onset Mendelian retinal dystrophies to... 
RETINOPATHIES | VARIANTS | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | GENE ABCR | PHENOTYPES | MUTATIONS | RETINITIS-PIGMENTOSA | ASSOCIATION | STARGARDT-DISEASE | Allelomorphism | Macular degeneration | Retinal degeneration | Research | Retinal diseases | Analysis | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 04/2019, Volume 60, Issue 5, pp. 1442 - 1453
PURPOSE. The purpose of this study was to test the extent of light damage in different models of night blindness and apply these paradigms in testing the... 
Night blindness | Photoreceptors | Light damage | Vision | Therapeutics | therapeutics | ALPHA-SUBUNIT | RHODOPSIN KINASE | ROD | PHENOTYPE | PHOTOTRANSDUCTION | light damage | photoreceptors | vision | GENE | MUTATION | STARGARDT DISEASE | OPHTHALMOLOGY | MICE | night blindness | MOLECULAR-MECHANISMS | Index Medicus
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1275 - 1285
PURPOSE. We determine if monomethyl fumarate (MMF) can protect the retina in mice subjected to light-induced retinopathy (LIR). METHODS. Albino BALB/c mice... 
light-induced retinopathy | retinal degeneration | OXIDATIVE STRESS | NLRP3 INFLAMMASOME ACTIVATION | DIMETHYL FUMARATE | NRF2 | MICROGLIA | NEUROINFLAMMATION | DYSTROPHY | neuroprotection | STARGARDT DISEASE | GENE-EXPRESSION | OPHTHALMOLOGY | SARPOGRELATE | monomethyl fumarate | Retina
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 1/2019, Volume 257, Issue 1, pp. 41 - 48
To describe the hyperreflective foci (HF) characteristics in eyes affected by Stargardt disease (STGD), correlating HF with the atrophy progression at 1-year... 
Ophthalmology | Stargardt disease | Medicine & Public Health | Optical coherence tomography | Hyperreflective foci | OPHTHALMOLOGY | LESIONS | DEGENERATION | Eye | Atrophy | Retina | Index Medicus
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 6436 - 6436
Fundus autofluorescence (FAF) imaging is crucial to the diagnosis and monitoring of recessive Stargardt disease (STGD1). In a retrospective cohort study of 34... 
VISUALIZATION | MACULAR PIGMENT | SHORT-WAVELENGTH AUTOFLUORESCENCE | LIPOFUSCIN | FUNDUS AUTOFLUORESCENCE | MULTIDISCIPLINARY SCIENCES | NEAR-INFRARED AUTOFLUORESCENCE | STARGARDT DISEASE | FLUORESCEIN ANGIOGRAPHY | MELANIN | RETINAL-PIGMENT EPITHELIUM
Journal Article
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, ISSN 0721-832X, 7/2017, Volume 255, Issue 7, pp. 1307 - 1317
Journal Article
by Carss, Keren J and Carss, Keren and Arno, Gavin and Erwood, Marie and Stephens, Jonathan and Sanchis-Juan, Alba and Hull, Sarah and Megy, Karyn and Grozeva, Detelina and Dewhurst, Eleanor and Malka, Samantha and Plagnol, Vincent and Penkett, Christopher J and Penkett, Christopher and Stirrups, Kathleen and Rizzo, Roberta and Wright, Genevieve and Josifova, Dragana and Bitner-Glindzicz, Maria and Scott, Richard H and Scott, Richard and Clement, Emma and Allen, Hana Lango and Allen, Louise and Armstrong, Ruth and Brady, Angela F and Brady, Angie and Carmichael, Jenny and Chitre, Manali and Henderson, Robert H.H and Henderson, Robert and Hurst, Jane and MacLaren, Robert E and MacLaren, Robert and Murphy, Elaine and Paterson, Joan and Rosser, Elisabeth and Thompson, Dorothy A and Thompson, Dorothy and Wakeling, Emma and Ouwehand, Willem H and Michaelides, Michel and Moore, Anthony and Moore, Anthony T and Aitman, Timothy and Alachkar, Hana and Ali, Sonia and Allsup, David and Ambegaonkar, Gautum and Anderson, Julie and Antrobus, Richard and Arumugakani, Gururaj and Ashford, Sofie and Astle, William and Attwood, Antony and Austin, Steve and Bacchelli, Chiara and Bakchoul, Tamam and Bariana, Tadbir K and Baxendale, Helen and Bennett, David and Bethune, Claire and Bibi, Shahnaz and Bleda, Marta and Boggard, Harm and Bolton-Maggs, Paula and Booth, Claire and Bradley, John R and Brown, Matthew and Browning, Michael and Bryson, Christine and Burns, Siobhan and Calleja, Paul and Canham, Natalie and Caulfield, Mark and Chalmers, Elizabeth and Chandra, Anita and Chinnery, Patrick and Church, Colin and Clements-Brod, Naomi and Clowes, Virginia and Coghlan, Gerry and Collins, Peter and Cooper, Nichola and Creaser-Myers, Amanda and DaCosta, Rosa and Daugherty, Louise and Davies, Sophie and Davis, John and De Vries, Minka and Deegan, Patrick and Deevi, Sri V.V and Deshpande, Charu and Devlin, Lisa and Doffinger, Rainer and Dormand, Natalie and Drewe, Elizabeth and Edgar, David and Egner, William and Erber, Wendy N and ... and NIHR-BioResource Rare Dis and NIHR-BioResource Rare Diseases Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 75 - 90
Journal Article