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Stargardt's

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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/29030399/robust-lysosomal-calcium-signaling-through-channel-trpml1-is-impaired-by-lysosomal-lipid-accumulation
#11
Néstor Más Gómez, Wennan Lu, Jason C Lim, Kirill Kiselyov, Keith E Campagno, Yulia Grishchuk, Susan A Slaugenhaupt, Bruce A Pfeffer, Steven J Fliesler, Claire H Mitchell
The transient receptor potential cation channel mucolipin 1 (TRPML1) channel is a conduit for lysosomal calcium efflux, and channel activity may be affected by lysosomal contents. The lysosomes of retinal pigmented epithelial (RPE) cells are particularly susceptible to build-up of lysosomal waste products because they must degrade the outer segments phagocytosed daily from adjacent photoreceptors; incomplete degradation leads to accumulation of lipid waste in lysosomes. This study asks whether stimulation of TRPML1 can release lysosomal calcium in RPE cells and whether such release is affected by lysosomal accumulations...
October 13, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29028687/hyperreflective-deposition-in-the-background-of-advanced-stargardt-disease
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/28973313/metrics-and-acquisition-modes-for-fixation-stability-as-a-visual-function-biomarker
#15
MULTICENTER STUDY
Etienne M Schönbach, Mohamed A Ibrahim, Xiangrong Kong, Rupert W Strauss, Beatriz Muñoz, David G Birch, Janet S Sunness, Sheila K West, Hendrik P N Scholl
Purpose: To compare different metrics and acquisition modes of fixation stability as a new visual function biomarker in a large cohort of patients with ABCA4-related Stargardt disease from the multicenter prospective ProgStar study. Methods: Fixation was tested during a separate fixation exam and also dynamically during a sensitivity exam, using fundus-tracking microperimetry (Nidek MP-1). Fixation data were analyzed using the bivariate contour ellipse area (BCEA), the 2/4 degree method, and the Fujii classification...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28971293/functional-changes-at-the-preferred-retinal-locus-in-subjects-with-bilateral-central-vision-loss
#16
Arun Kumar Krishnan, Harold E Bedell
PURPOSE: Subjects with bilateral central vision loss (CVL) use a retinal region called the preferred retinal locus (PRL) for performing various visual tasks. We probed the fixation PRL in individuals with bilateral macular disease, including age-related macular degeneration (AMD) and Stargardt disease (STGD), for localized sensitivity deficits. METHODS: Three letter words at the critical print size were presented in the NIDEK MP-1 microperimeter to determine the fixation PRL and its radial retinal eccentricity from the residual fovea in 29 subjects with bilateral CVL...
October 2, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28947085/the-rapid-onset-chorioretinopathy-phenotype-of-abca4-disease
#17
Koji Tanaka, Winston Lee, Jana Zernant, Kaspar Schuerch, Lyam Ciccone, Stephen H Tsang, Janet R Sparrow, Rando Allikmets
PURPOSE: To characterize patients affected by a uniquely severe, rapid-onset chorioretinopathy (ROC) phenotype of ABCA4 disease. DESIGN: Comparative cohort study. PARTICIPANTS: Sixteen patients were selected from a large clinically diagnosed and genetically confirmed cohort (n = 300) of patients diagnosed with ABCA4 disease. MAIN OUTCOME MEASURES: Phenotypic characteristics were assessed on color fundus photographs, short-wavelength autofluorescence (488-nm), and near-infrared autofluorescence (NIR-AF, 787-nm) images...
September 22, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28941524/juvenile-macular-degenerations
#18
Pablo Altschwager, Lucia Ambrosio, Emily A Swanson, Anne Moskowitz, Anne B Fulton
In this article, we review the following 3 common juvenile macular degenerations: Stargardt disease, X-linked retinoschisis, and Best vitelliform macular dystrophy. These are inherited disorders that typically present during childhood, when vision is still developing. They are sufficiently common that they should be included in the differential diagnosis of visual loss in pediatric patients. Diagnosis is secured by a combination of clinical findings, optical coherence tomography imaging, and genetic testing...
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28920007/towards-treatment-of-stargardt-disease-workshop-organized-and-sponsored-by-the-foundation-fighting-blindness
#19
REVIEW
Avery E Sears, Paul S Bernstein, Artur V Cideciyan, Carel Hoyng, Peter Charbel Issa, Krzysztof Palczewski, Philip J Rosenfeld, SriniVas Sadda, Ulrich Schraermeyer, Janet R Sparrow, Ilyas Washington, Hendrik P N Scholl
Accumulation of fluorescent metabolic byproducts of the visual (retinoid) cycle is associated with photoreceptor and retinal pigment epithelial cell death in both Stargardt disease and atrophic (nonneovascular) age-related macular degeneration (AMD). As a consequence of this observation, small molecular inhibitors of enzymes in the visual cycle were recently tested in clinical trials as a strategy to protect the retina and retinal pigment epithelium in patients with atrophic AMD. To address the clinical translational needs for therapies aimed at both diseases, a workshop organized by the Foundation Fighting Blindness was hosted by the Department of Pharmacology at Case Western Reserve University on February 17, 2017, at the Tinkham Veale University Center, Cleveland, OH, USA...
September 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28919188/-contribution-of-multimodal-imaging-in-the-various-stages-of-stargardt-disease
#20
L El Matri, Y Falfoul, M Kortli, A Hassairi, H Charfi, A Turki, F Kort, A Chebil
PURPOSE: To describe the contribution of multimodal imaging in the various stages of Stargardt disease (STGD). PATIENTS AND METHODS: We retrospectively reviewed 46 eyes of 23 STGD patients with identified ABCA4 mutations. All patients underwent a complete ophthalmic examination, spectral-domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), fluorescein angiography (FA) and Indocyanine green angiography (ICGA). RESULTS: The mean age of patients was 25...
October 2017: Journal Français D'ophtalmologie
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