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Stargardt disease

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https://www.readbyqxmd.com/read/28198784/choroidal-thickness-in-patients-with-stargardt-disease
#1
Esra Vural, Ugur Acar, Mehmet K Sevinc, Mesut Erdurmus, Bekir Kucuk, Seckin Aykas, Gungor Sobaci
PURPOSE: To investigate the relationship between choroidal thicknesses (CT), central foveal thicknesses, multifocal electroretinography (mf-ERG) responses, and best-corrected visual acuity levels in patients with Stargardt disease (STGD). METHODS: A total of 30 eyes of 30 patients with STGD, and 30 age- and sex-matched healthy controls were included in the study. All participants underwent detailed ophthalmic examination including best-corrected visual acuity and spectral domain optical coherence tomography measurements, and also patients with STGD were performed mf-ERG...
February 14, 2017: Retina
https://www.readbyqxmd.com/read/28151966/optical-coherence-tomography-angiography-findings-in-stargardt-disease
#2
Rodolfo Mastropasqua, Lisa Toto, Enrico Borrelli, Luca Di Antonio, Peter A Mattei, Alfonso Senatore, Marta Di Nicola, Cesare Mariotti
BACKGROUND: to assess vessel density of superficial capillary plexus (SCP), deep capillary plexus (DCP) and choriocapillaris (CC) in advanced Stargardt disease (STGD) using optical coherence tomography angiography (OCTA) and correlate these findings with macular function using pattern electroretinogram (PERG) and multifocal electroretinogram (mfERG). METHODS: Twelve patients (24 eyes) with advanced STGD underwent vessel densities and macular thickness measurements using OCTA...
2017: PloS One
https://www.readbyqxmd.com/read/28149006/role-of-lipids-in-retinal-vascular-and-macular-disorders
#3
REVIEW
Gunjan Prakash, Rachit Agrawal, Tanie Natung
Retinal diseases are significant by increasing problem in every part of the world. While excellent treatment has emerged for various retinal diseases, treatment for early disease is lacking due to an incomplete understanding of all molecular events. With aging, there is a striking accumulation of neutral lipids in Bruch's membrane. These neutral lipids leads to the creation of a lipid wall at the same locations where drusen and basal linear deposit, pathognomonic lesions of Age-related macular degeneration, subsequently form...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/28147405/prominent-optic-disc-featured-in-inherited-retinopathy
#4
M G Todorova, R I Bojinova, C Valmaggia, D F Schorderet
Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p...
February 1, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28121212/macular-hole-in-stargardt-disease-clinical-and-ultra-structural-observation
#5
Stanislao Rizzo, Dario Pasquale Mucciolo, Daniela Bacherini, Vittoria Murro, Lorenzo Vannozzi, Gianni Virgili, Daniele Bani, Andrea Sodi
PURPOSE: To report for the first time a case report of a Stargardt disease patient who developed a macular hole (MH) which was treated with a surgical approach. METHOD: Case report. RESULTS: After vitrectomy a complete closure of the MH was obtained and the best-corrected visual acuity remained stable. No complications were reported after one year of follow-up. An ultra-structural examination of the removed internal limiting membrane (ILM) and epiretinal membrane (ERM) was carried out under electron microscopy...
January 25, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28118664/mutation-spectrum-of-the-abca4-gene-in-335-stargardt-disease-patients-from-a-multicenter-german-cohort-impact-of-selected-deep-intronic-variants-and-common-snps
#6
Heidi L Schulz, Felix Grassmann, Ulrich Kellner, Georg Spital, Klaus Rüther, Herbert Jägle, Karsten Hufendiek, Philipp Rating, Cord Huchzermeyer, Maria J Baier, Bernhard H F Weber, Heidi Stöhr
Purpose: Stargardt disease (STGD1) is an autosomal recessive retinopathy, caused by mutations in the retina-specific ATP-binding cassette transporter (ABCA4) gene. To establish the mutational spectrum and to assess effects of selected deep intronic and common genetic variants on disease, we performed a comprehensive sequence analysis in a large cohort of German STGD1 patients. Methods: DNA samples of 335 STGD1 patients were analyzed for ABCA4 mutations in its 50 coding exons and adjacent intronic sequences by resequencing array technology or next generation sequencing (NGS)...
January 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28115520/cellular-uptake-and-delivery-of-myeloperoxidase-to-lysosomes-promotes-lipofuscin-degradation-and-lysosomal-stress-in-retinal-cells
#7
Gouri Yogalingam, Amanda R Lee, Donald S Mackenzie, Travis J Maures, Agnes Rafalko, Heather Prill, Geoffrey Berguig, Chuck Hague, Terri Christianson, Sean M Bell, Jonathon H LeBowitz
Neutrophil myeloperoxidase (MPO) catalyzes the H2O2-dependent oxidation of chloride anion to generate hypochlorous acid, a potent antimicrobial agent. Besides its well defined role in innate immunity, aberrant degranulation of neutrophils in several inflammatory diseases leads to redistribution of MPO to the extracellular space, where it can mediate tissue damage by promoting the oxidation of several additional substrates. Here, we demonstrate that mannose-6-phosphate (M6P) receptor-mediated cellular uptake and delivery of MPO to lysosomes of retinal pigmented epithelial (RPE) cells acts to clear this harmful enzyme from the extracellular space, with lysosomal-delivered MPO exhibiting a half-life of 10 hours...
January 23, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28099317/stargardt-disease-beyond-flecks-and-atrophy
#8
Jacob G Light, Masoud A Fard, Mehdi Yaseri, Paul Aiyetan, James T Handa, Katayoon B Ebrahimi
PURPOSE: To identify changes in the outer retina in areas without atrophy or flecks of Stargardt disease (STGD) using spectral-domain optical coherence tomography. METHODS: Twenty-three STGD patients and 26 control subjects were assessed for outer retina (from the outer border of Bruch membrane [BrM] to the inner border of the inner segment ellipsoid zone [EZ]), BrM-retinal pigment epithelium apex, the EZ thickness, and apical process interdigitation zone. RESULTS: Patients with STGD had increased BrM-EZ thickness in areas without apparent disease versus control subjects at 1,000, 1,500, 2,000, and 2,500 μm superior and 1,500 μm, 2,000 μm, and 2,500 μm inferior to the fovea (P < 0...
January 17, 2017: Retina
https://www.readbyqxmd.com/read/28095140/prom1-gene-variations-in-brazilian-patients-with-macular-dystrophy
#9
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela Lima Teixeira, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Martin, João Bosco Pesquero, Juliana Maria Ferraz Sallum
BACKGROUND: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. MATERIAL AND METHODS: This retrospective study evaluated variations in the PROM1 gene detected by next-generation sequencing test in patients with macular dystrophy and Stargardt disease...
January 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28044389/in-silico-functional-meta-analysis-of-5-962-abca4-variants-in-3-928-retinal-dystrophy-cases
#10
Stéphanie S Cornelis, Nathalie M Bax, Jana Zernant, Rando Allikmets, Lars G Fritsche, Johan T den Dunnen, Muhammad Ajmal, Carel B Hoyng, Frans P M Cremers
Variants in the ABCA4 gene are associated with a spectrum of inherited retinal diseases (IRDs), most prominently with autosomal recessive (ar) Stargardt disease (STGD1) and ar cone-rod dystrophy. The clinical outcome to a large degree depends on the severity of the variants. To provide an accurate prognosis and to select patients for novel treatments, functional significance assessment of nontruncating ABCA4 variants is important. We collected all published ABCA4 variants from 3,928 retinal dystrophy cases in a Leiden Open Variation Database, and compared their frequency in 3,270 Caucasian IRD cases with 33,370 non-Finnish European control individuals...
January 3, 2017: Human Mutation
https://www.readbyqxmd.com/read/28035529/hereditary-retinal-dystrophy
#11
Thomas C Hohman
As our understanding of the genetic basis for inherited retinal disease has expanded, gene therapy has advanced into clinical development. When the gene mutations associated with inherited retinal dystrophies were identified, it became possible to create animal models in which individual gene were altered to match the human mutations. The retina of these animals were then characterized to assess whether the mutated genes produced retinal phenotypes characteristic of disease-affected patients. Following the identification of a subpopulation of patients with the affected gene and the development of techniques for the viral gene transduction of retinal cells, it has become possible to deliver a copy of the normal gene into the retinal sites of the mutated genes...
December 30, 2016: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28002570/asymmetric-inter-eye-progression-in-stargardt-disease
#12
Stanley Lambertus, Nathalie M Bax, Joannes M M Groenewoud, Frans P M Cremers, Gert Jan van der Wilt, B Jeroen Klevering, Thomas Theelen, Carel B Hoyng
Purpose: Asymmetry in disease progression between left and right eyes can occur in Stargardt disease (STGD1), and this needs to be considered in novel therapeutic trials with a fellow-eye paired controlled design. This study investigated the inter-eye discordance of best-corrected visual acuity (BCVA) and progression of RPE atrophy in STGD1. Methods: We performed a retrospective cohort study collecting 68 STGD1 patients (136 eyes) with ≥1 ABCA4 variants and ≥0...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27984836/-do-we-still-need-electrophysiology-in-ophthalmology
#13
H Tegetmeyer
Electrophysiological methods in clinical ophthalmology include the full-field electroretinogram (ERG) for assessment of outer and middle retinal layers, pattern ERG (PERG) for assessment of ganglion cell function, the electrooculogram (EOG) for assessment of retinal pigment epithelium function, as well as visual evoked potentials (VEP) for assessment of the visual pathway, including the optic nerve and visual cortex. Multifocal recording techniques for ERG and VEP are used for tests within selected areas of the visual field...
December 2016: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/27941641/potential-of-induced-pluripotent-stem-cells-ipscs-for-treating-age-related-macular-degeneration-amd
#14
REVIEW
Mark Fields, Hui Cai, Jie Gong, Lucian Del Priore
The field of stem cell biology has rapidly evolved in the last few decades. In the area of regenerative medicine, clinical applications using stem cells hold the potential to be a powerful tool in the treatment of a wide variety of diseases, in particular, disorders of the eye. Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) are promising technologies that can potentially provide an unlimited source of cells for cell replacement therapy in the treatment of retinal degenerative disorders such as age-related macular degeneration (AMD), Stargardt disease, and other disorders...
December 8, 2016: Cells
https://www.readbyqxmd.com/read/27939946/stargardt-disease-associated-mutation-spectrum-of-a-russian-federation-cohort
#15
Inna V Zolnikova, Vladimir V Strelnikov, Natalia A Skvortsova, Alexander S Tanas, Debmalya Barh, Elena V Rogatina, Irina V Egorova, Darja V Levina, Olga N Demenkova, Egor G Prikaziuk, Marianna E Ivanova
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation...
February 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27875314/receptor-mer-tyrosine-kinase-proto-oncogene-mertk-is-not-required-for-transfer-of-bis-retinoids-to-the-retinal-pigmented-epithelium
#16
Grazyna Palczewska, Akiko Maeda, Marcin Golczak, Eisuke Arai, Zhiqian Dong, Lindsay Perusek, Brian Kevany, Krzysztof Palczewski
Accumulation of bis-retinoids in the retinal pigmented epithelium (RPE) is a hallmark of aging and retinal disorders such as Stargardt disease and age-related macular degeneration. These aberrant fluorescent condensation products, including di-retinoid-pyridinium-ethanolamine (A2E), are thought to be transferred to RPE cells primarily through phagocytosis of the photoreceptor outer segments. However, we observed by two-photon microscopy that mouse retinas incapable of phagocytosis due to a deficiency of the c-Mer proto-oncogene tyrosine kinase (Mertk) nonetheless contained fluorescent retinoid condensation material in their RPE...
December 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27860478/-gene-therapy-for-inherited-retinal-and-optic-nerve-disorders-current-knowledge
#17
Ľ Ďuďáková, B Kousal, H Kolářová, L Hlavatá, P Lišková
The aim of this review is to provide a comprehensive summary of current gene therapy clinical trials for monogenic and optic nerve disorders.The number of genes for which gene-based therapies are being developed is growing. At the time of writing this review gene-based clinical trials have been registered for Leber congenital amaurosis 2 (LCA2), retinitis pigmentosa 38, Usher syndrome 1B, Stargardt disease, choroideremia, achromatopsia, Leber hereditary optic neuropathy (LHON) and X-linked retinoschisis. Apart from RPE65 gene therapy for LCA2 and MT-ND4 for LHON which has reached phase III, all other trials are in investigation phase I and II, i...
2016: Ceská a Slovenská Oftalmologie
https://www.readbyqxmd.com/read/27813578/analysis-of-elovl4-and-prph2-genes-in-turkish-stargardt-disease-patients
#18
H Bardak, M Gunay, Y Erçalık, Y Bardak, H Ozbas, O Bagci, A Ayata, M Sönmez, C Alagöz
Stargardt disease (STGD) is an inherited genetic eye condition involving bilateral macular dystrophy leading to progressive central vision loss. It is the most common form of autosomal recessive juvenile macular dystrophy. In this study, ELOVL4 and PRPH2 genes were analyzed in 30 STGD probands for genetic variations using next-generation sequencing. In the patient group, two genetic variants in exon 6 of ELOVL4, and three in exon 3 of PRPH2 were detected. All sequence modifications in both ELOVL4 and PRPH2 were recorded, including those of a non-pathogenic nature...
October 24, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27775217/the-intronic-abca4-c-5461-10t-c-variant-frequently-seen-in-patients-with-stargardt-disease-causes-splice-defects-and-reduced-abca4-protein-level
#19
Ingvild Aukrust, Ragnhild W Jansson, Cecilie Bredrup, Hilde E Rusaas, Siren Berland, Agnete Jørgensen, Marte G Haug, Eyvind Rødahl, Gunnar Houge, Per M Knappskog
PURPOSE: Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, the functional effect of the intronic ABCA4 variant c.5461-10T>C is unknown. The purpose of this study was to investigate the molecular effect of this variant. METHODS: Fibroblast samples from patients carrying the ABCA4 variant c.5461-10T>C were analysed by isolating total RNA, followed by real-time polymerase chain reaction (RT-PCR) using specific primers spanning the variant...
October 24, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27739528/clinical-and-genetic-analyses-reveal-novel-pathogenic-abca4-mutations-in-stargardt-disease-families
#20
Bing Lin, Xue-Bi Cai, Zhi-Li Zheng, Xiu-Feng Huang, Xiao-Ling Liu, Jia Qu, Zi-Bing Jin
Stargardt disease (STGD1) is a juvenile macular degeneration predominantly inherited in an autosomal recessive pattern, characterized by decreased central vision in the first 2 decades of life. The condition has a genetic basis due to mutation in the ABCA4 gene, and arises from the deposition of lipofuscin-like substance in the retinal pigmented epithelium (RPE) with secondary photoreceptor cell death. In this study, we describe the clinical and genetic features of Stargardt patients from four unrelated Chinese cohorts...
October 14, 2016: Scientific Reports
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