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Stargardt disease

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https://www.readbyqxmd.com/read/29229934/bis-monoacylglycero-phosphate-lipids-in-the-retinal-pigment-epithelium-implicate-lysosomal-endosomal-dysfunction-in-a-model-of-stargardt-disease-and-human-retinas
#1
David M G Anderson, Zsolt Ablonczy, Yiannis Koutalos, Anne M Hanneken, Jeffrey M Spraggins, M Wade Calcutt, Rosalie K Crouch, Richard M Caprioli, Kevin L Schey
Stargardt disease is a juvenile onset retinal degeneration, associated with elevated levels of lipofuscin and its bis-retinoid components, such as N-retinylidene-N-retinylethanolamine (A2E). However, the pathogenesis of Stargardt is still poorly understood and targeted treatments are not available. Utilizing high spatial and high mass resolution matrix assisted laser desorption ionization (MALDI) imaging mass spectrometry (IMS), we determined alterations of lipid profiles specifically localized to the retinal pigment epithelium (RPE) in Abca4 -/- Stargardt model mice compared to their relevant background strain...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29188796/in-situ-regeneration-of-retinal-pigment-epithelium-by-gene-transfer-of-e2f2-a-potential-strategy-for-treatment-of-macular-degenerations
#2
D Kampik, M Basche, U F O Luhmann, K M Nishiguchi, J A E Williams, J Greenwood, S E Moss, H Han, S Azam, Y Duran, S J Robbie, J W B Bainbridge, D F Larkin, A J Smith, R R Ali
The retinal pigment epithelium (RPE) interacts closely with photoreceptors to maintain visual function. In degenerative diseases such as Stargardt disease and age-related macular degeneration, the leading cause of blindness in the developed world, RPE cell loss is followed by photoreceptor cell death. RPE cells can proliferate under certain conditions, suggesting an intrinsic regenerative potential, but so far this has not been utilised therapeutically. Here, we used E2F2 to induce RPE cell replication and thereby regeneration...
November 30, 2017: Gene Therapy
https://www.readbyqxmd.com/read/29188512/dual-aav-vectors-for-stargardt-disease
#3
Ivana Trapani
Stargardt disease (STGD1), due to mutations in the large ABCA4 gene, is the most common inherited macular degeneration in humans. Attempts at developing gene therapy approaches for treatment of STGD1 are currently ongoing. Among all the vectors available for gene therapy of inherited retinal diseases, those based on adeno-associated viruses (AAV) are the most promising given the efficacy shown in various animal models and their excellent safety profile in humans, as confirmed in many ongoing clinical trials...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29178665/early-impairment-of-the-full-field-photopic-negative-response-in-patients-with-stargardt-disease-and-pathogenic-variants-of-the-abca4-gene
#4
Edoardo Abed, Giorgio Placidi, Francesca Campagna, Matteo Federici, Angelo Minnella, Giulia Guerri, Matteo Bertelli, Marco Piccardi, Lucia Galli-Resta, Benedetto Falsini
BACKGROUND: To study the photopic negative response of the full-field photopic ERG in Stargardt patients with pathogenic variants in the ABCA4 gene. METHODS: A retrospective analysis of 35 Stargardt patients with ABCA4 gene pathogenic variants, compared to normal age matched controls. Patients were clinically followed at the Ophthalmology Department of Fondazione Policlinico Universitario A. Gemelli/Università Cattolica del Sacro Cuore - Rome, Italy. RESULTS: The photopic negative response of the full-field photopic ERG was compromised in most Stargardt patients...
November 25, 2017: Clinical & Experimental Ophthalmology
https://www.readbyqxmd.com/read/29162642/abca4-midigenes-reveal-the-full-splice-spectrum-of-all-reported-noncanonical-splice-site-variants-in-stargardt-disease
#5
Riccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, Valerie Richelle, Silvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L Ingeborgh van den Born, Rob W J Collin, Frans P M Cremers
Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, small genomic fragments carrying potential disease-associated variants are tested for splice abnormalities using in vitro splice assays. We recently discovered that when using small minigenes lacking the proper genomic context, in vitro results do not correlate with splice defects observed in patient cells...
November 21, 2017: Genome Research
https://www.readbyqxmd.com/read/29162627/a-therapeutic-combination-of-gpcr-modulators-that-protects-photoreceptors-from-degeneration
#6
Tivadar Orban, Henri Leinonen, Tamar Getter, Zhiqian Dong, Wenyu Sun, Songqi Gao, Alexander Veenstra, Hossein Heidari-Torkabadi, Timothy S Kern, Philip D Kiser, Krzysztof Palczewski
Degeneration of retinal photoreceptor cells can arise from environmental and/or genetic causes. Since photoreceptor cells, the retinal pigment epithelium (RPE), neurons and glial cells of the retina are intimately associated; all cell types eventually are affected by retinal degenerative diseases. Such diseases often originate either in rod and/or cone photoreceptor cells or the RPE. Of these, cone cells located in the central retina are especially important for daily human activity. Here we describe the protection of cone cells by a combination therapy consisting of the G protein-coupled receptor modulators metoprolol, tamsulosin, and bromocriptine...
November 21, 2017: Journal of Pharmacology and Experimental Therapeutics
https://www.readbyqxmd.com/read/29149824/the-role-of-gene-therapy-in-the-treatment-of-retinal-diseases-a-review
#7
Claudio Campa, Carla Enrica Gallenga, Elena Bolletta, Paolo Perri
Background: Gene therapy represents the therapeutic delivery of nucleic acid polymers into a patient's cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
November 16, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29145636/localization-and-functional-characterization-of-the-p-asn965ser-n965s-abca4-variant-in-mice-reveal-pathogenic-mechanisms-underlying-stargardt-macular-degeneration
#8
Laurie L Molday, Daniel Wahl, Marinko Sarunic, Robert S Molday
ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) proteins that transports N-retinylidene-phosphatidylethanolamine (N-Ret-PE) across outer segment disc membranes thereby facilitating the removal of potentially toxic retinoid compounds from photoreceptor cells. Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. To define the molecular basis for STGD1 associated with the p.Asn965Ser (N965S) mutation in the Walker A motif of nucleotide binding domain 1 (NBD1), we generated a p...
November 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29141905/adaptive-optics-imaging-of-inherited-retinal-diseases
#9
REVIEW
Michalis Georgiou, Angelos Kalitzeos, Emily J Patterson, Alfredo Dubra, Joseph Carroll, Michel Michaelides
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this review, we briefly discuss the evolution of AO ophthalmoscopy, recent developments and its application to a broad range of inherited retinal diseases, including Stargardt disease, retinitis pigmentosa and achromatopsia...
November 15, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29126757/quantifying-the-rate-of-ellipsoid-zone-loss-in-stargardt-disease
#10
Cindy X Cai, Jacob G Light, James T Handa
PURPOSE: To determine a reliable method of using the ellipsoid zone (EZ) on optical coherence tomography (OCT) to track disease progression in Stardgardt disease (STGD). DESIGN: retrospective reliability study METHODS: STGD patients with genetically confirmed ABCA4 gene mutations seen at the Wilmer Eye Institute with follow-up visits separated by at least 12 months were identified. Spectral domain optical coherence tomography (SD-OCT) macula volume scans centered at the fovea and fundus autofluorescence (FAF) images were obtained...
November 7, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29114839/novel-complex-abca4-alleles-in-brazilian-patients-with-stargardt-disease-genotype-phenotype-correlation
#11
Mariana Vallim Salles, Fabiana Louise Motta, Elton Dias da Silva, Patricia Varela, Kárita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, John Pei-Wen Chiang, João Bosco Pesquero, Juliana Maria Ferraz Sallum
Purpose: To analyze the presence of complex alleles of the ABCA4 gene in Brazilian patients with Stargardt disease and to assess the correlation with clinical features. Methods: This was an observational cross-sectional study. Patients with a diagnosis of Stargardt disease who presented three pathogenic variants of the ABCA4 gene or who had variants previously described as complex alleles were included. The relatives of these probands were evaluated in the segregation analysis...
November 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29074493/comparative-analysis-of-autofluorescence-and-oct-angiography-in-stargardt-disease
#12
Abhilash Guduru, Marco Lupidi, Arushi Gupta, Subhadra Jalali, Jay Chhablani
AIMS: To characterise the vasculature of the retina in patients with Stargardt disease (STGD) using optical coherence tomography angiography (OCTA) and to compare these functional findings with fundus autofluorescence (FAF) imaging. METHODS: This observational study included consecutive patients with STGD. The choriocapillaris (CC) layer was analysed on OCTA and retinal pigment epithelium (RPE) changes were assessed on FAF. Areas of CC and RPE impairment were quantified and correlated...
October 26, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29068916/visual-acuity-in-patients-with-stargardt-disease-after-age-40
#13
Frederick T Collison, Gerald A Fishman
PURPOSE: To better define visual acuity loss in patients with Stargardt disease later in life. METHODS: The most recent best-corrected visual acuities in the better-seeing eye of 221 patients with Stargardt disease over 40 years of age were recorded. Also included were the age at subjective onset for symptoms and duration of symptoms. Juvenile onset was defined as onset before age 21; adult onset was defined as onset between 21 and 40 years; and late onset was defined as onset at age 41 or later...
October 24, 2017: Retina
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#14
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29049723/a-comparison-of-en-face-optical-coherence-tomography-and-fundus-autofluorescence-in-stargardt-disease
#15
COMPARATIVE STUDY
Vivienne C Greenstein, Jason Nunez, Winston Lee, Kaspar Schuerch, Brad Fortune, Stephen H Tsang, Rando Allikmets, Janet R Sparrow, Donald C Hood
Purpose: To compare morphologic changes on en face images derived from wide-field swept-source optical coherence tomography (ssOCT) to hypo- and hyperautofluorescent (hypoAF, hyperAF) areas on short-wavelength autofluorescence (SW-AF), and near-infrared (NIR)-AF in recessive Stargardt disease (STGD1). Methods: Wide-field ssOCT cube scans were obtained from 16 patients (16 eyes). Averaged B-scans and SW-AF images were obtained using Spectralis HRA+OCT. NIR-AF images were obtained from 6 eyes...
October 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29049437/progression-of-stargardt-disease-as-determined-by-fundus-autofluorescence-in-the-retrospective-progression-of-stargardt-disease-study-progstar-report-no-9
#16
Rupert W Strauss, Beatriz Muñoz, Alexander Ho, Anamika Jha, Michel Michaelides, Artur V Cideciyan, Isabelle Audo, David G Birch, Amir H Hariri, Muneeswar G Nittala, SriniVas Sadda, Sheila West, Hendrik P N Scholl
Importance: Sensitive outcome measures for disease progression are needed for treatment trials of Stargardt disease. Objective: To describe the yearly progression rate of atrophic lesions in the retrospective Progression of Stargardt Disease study. Design, Setting, and Participants: A multicenter retrospective cohort study was conducted at tertiary referral centers in the United States and Europe. A total of 251 patients aged 6 years or older at baseline, harboring disease-causing variants in ABCA4 (OMIM 601691), enrolled in the study from 9 centers between August 2, 2013, and December 12, 2014; of these patients, 215 had at least 2 gradable fundus autofluorescence images with atrophic lesion(s) present in at least 1 eye...
November 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29038010/peripheral-visual-fields-in-abca4-stargardt-disease-and-correlation-with-disease-extent-on-ultra-widefield-fundus-autofluorescence
#17
Maria Fernanda Abalem, Benjamin Otte, Chris Andrews, Katherine A Joltikov, Kari Branham, Abigail T Fahim, Dana Schlegel, Cynthia X Qian, John R Heckenlively, Thiran Jayasundera
PURPOSE: To evaluate the disease extent on ultra-widefield fundus autofluorescence (UWF-FAF) in patients with ABCA4- Stargardt disease (STGD) and correlate this data with functional outcome measures. DESIGN: Retrospective cross sectional study SETTING: Kellogg Eye Center, University of Michigan STUDY POPULATION: Sixty-five patients with clinical diagnosis and proven pathogenic variants in the ABCA4 gene. OBSERVATIONAL PROCEDURES: The UWF-FAF images were obtained using Optos 200- degrees and classified into three types...
October 14, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29028687/hyperreflective-deposition-in-the-background-of-advanced-stargardt-disease
#18
Lyam Ciccone, Winston Lee, Jana Zernant, Koji Tanaka, Kaspar Schuerch, Stephen H Tsang, Rando Allikmets
PURPOSE: To describe an unusual manifestation of hyperreflective deposits in the subretinal space in a group of patients with clinically and genetically confirmed Stargardt disease. METHODS: Retrospective review of color fundus, autofluorescence, infrared reflectance, red-free images, and spectral domain optical coherence tomography in 296 clinically diagnosed and genetically confirmed (2 expected disease-causing mutations in ABCA4) patients with Stargardt disease...
October 12, 2017: Retina
https://www.readbyqxmd.com/read/29016459/choroidal-structural-changes-and-vascularity-index-in-stargardt-disease-on-swept-source-optical-coherence-tomography
#19
Dhanashree Ratra, Roy Tan, Durgasri Jaishankar, Neha Khandelwal, Arushi Gupta, Jay Chhablani, Rupesh Agrawal
PURPOSE: To evaluate structural changes in the choroid of patients with Stargardt disease using swept source optical coherence tomography scans. METHODS: A retrospective comparison cohort study was conducted on 39 patients with Stargardt disease, and on 25 age and gender matched-healthy controls. Subfoveal choroidal thickness (SFCT) was computed from the swept source optical coherence tomography machine, and the scans were binarized into luminal area and stromal areas, which were then used to derive choroidal vascularity index (CVI)...
October 6, 2017: Retina
https://www.readbyqxmd.com/read/28980559/-molecular-genetic-diagnosis-of-stargardt-disease
#20
N L Sheremet, N V Zhorzholadze, I A Ronzina, I G Grushke, S A Kurbatov, A L Chukhrova, A N Loginova, P O Shcherbakova, A S Tanas, A V Polyakov, V V Strel'nikov
AIM: To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallel sequencing of all coding regions of the ABCA4, ELOVL4, PROM1, and CNGB3 genes. MATERIAL AND METHODS: MLPA analysis for 5 ABCA4 mutations, namely p.G863A, p.L541P, p.A1038V, p.G1961E, and p.P1380L, was done in 54 patients with SD. In 25 patients, massive parallel sequencing of coding regions (exons) and neighboring introns of the ABCA4, ELOVL4, PROM1, and CNGB3 genes was also performed...
2017: Vestnik Oftalmologii
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