keyword
MENU ▼
Read by QxMD icon Read
search

Stargardt's

keyword
https://www.readbyqxmd.com/read/29304098/edi-oct-evaluation-of-choroidal-thickness-in-stargardt-disease
#1
Andrea Sodi, Daniela Bacherini, Chiara Lenzetti, Orsola Caporossi, Vittoria Murro, Dario Pasquale Mucciolo, Francesca Cipollini, Ilaria Passerini, Gianni Virgili, Stanislao Rizzo
PURPOSE: Choroidal thickness (CT) evaluation with EDI-OCT in Stargardt Disease (STGD), considering its possible association with some clinical features of the disease. METHODS: CT was evaluated in 41 STGD patients and in 70 controls. Measurements were performed in the subfoveal position and at 1000 μm nasally and temporally. CT average values in STGD and in the control group were first compared by means of Student's T test. Then, the possible association between CT and some clinical features was evaluated by means of linear regression analysis...
2018: PloS One
https://www.readbyqxmd.com/read/29288030/peripheral-pigmented-retinal-lesions-in-stargardt-disease
#2
Peter Y Zhao, Maria Fernanda Abalem, Daniel Nadelman, Cynthia X Qian, Kari Branham, Dana Schlegel, Naheed Khan, John R Heckenlively, Thiran Jayasundera
PURPOSE: To investigate the prevalence of peripheral pigmented retinal lesions and associated clinical findings in patients with Stargardt disease. DESIGN: Retrospective case series. METHODS: Records at a single academic institution were reviewed for patients with genetically confirmed Stargardt disease with peripheral pigmented retinal lesions on wide-field retinal imaging. For this cohort we described demographics, clinical features, and pathogenic variants...
December 26, 2017: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29260499/choroidal-osteoma-and-pattern-dystrophy-of-retinal-pigment-epithelium
#3
Vinod Kumar
PURPOSE: To describe co-occurrence of choroidal osteoma in a patient with pattern dystrophy of retinal pigment epithelium. METHODS: Clinical case report RESULTS: A young female presented with decreased vision in the right eye due to decalcification of choroidal osteoma. Multimodal imaging including fundus autofluorescence, fluorescein angiography and optical coherence tomography showed features of pattern dystrophy of retinal pigment epithelium that simulates the Stargardt disease...
December 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/29259527/%C3%A2-potential-of-gene-editing-and-induced-pluripotent-stem-cells-ipscs-in-treatment-of-retinal-diseases%C3%A2
#4
REVIEW
Katherine Chuang, Mark A Fields, Lucian V Del Priore
The advent of gene editing has introduced the ability to make changes to the genome of cells, thus allowing for correction of genetic mutations in patients with monogenic diseases. Retinal diseases are particularly suitable for the application of this new technology because many retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and Leber congenital amaurosis (LCA), are monogenic. Moreover, gene delivery techniques such as the use of adeno-associated virus (AAV) vectors have been optimized for intraocular use, and phase III trials are well underway to treat LCA, a severe form of inherited retinal degeneration, with gene therapy...
December 2017: Yale Journal of Biology and Medicine
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
#5
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
#6
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
#7
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
#8
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/29168048/homozygous-expression-of-mutant-elovl4-leads-to-seizures-and-death-in-a-novel-animal-model-of-very-long-chain-fatty-acid-deficiency
#9
Blake R Hopiavuori, Ferenc Deák, Joseph L Wilkerson, Richard S Brush, Nicole A Rocha-Hopiavuori, Austin R Hopiavuori, Kathryn G Ozan, Michael T Sullivan, Jonathan D Wren, Constantin Georgescu, Luke Szweda, Vibhudutta Awasthi, Rheal Towner, David M Sherry, Robert E Anderson, Martin-Paul Agbaga
Lipids are essential components of the nervous system. However, the functions of very long-chain fatty acids (VLC-FA; ≥ 28 carbons) in the brain are unknown. The enzyme ELOngation of Very Long-chain fatty acids-4 (ELOVL4) catalyzes the rate-limiting step in the biosynthesis of VLC-FA (Agbaga et al., Proc Natl Acad Sci USA 105(35): 12843-12848, 2008; Logan et al., J Lipid Res 55(4): 698-708, 2014), which we identified in the brain as saturated fatty acids (VLC-SFA). Homozygous mutations in ELOVL4 cause severe neuropathology in humans (Ozaki et al...
November 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29162642/abca4-midigenes-reveal-the-full-splice-spectrum-of-all-reported-noncanonical-splice-site-variants-in-stargardt-disease
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
18594
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"