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Stargardt disease

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https://www.readbyqxmd.com/read/29625839/choroidal-and-sub-retinal-pigment-epithelium-caverns-multimodal-imaging-and-correspondence-with-friedman-lipid-globules
#1
Rosa Dolz-Marco, Jay P Glover, Orly Gal-Or, Katie M Litts, Jeffrey D Messinger, Yuhua Zhang, Mariano Cozzi, Marco Pellegrini, K Bailey Freund, Giovanni Staurenghi, Christine A Curcio
PURPOSE: To survey Friedman lipid globules by high-resolution histologic examination and to compare with multimodal imaging of hyporeflective caverns in eyes with geographic atrophy (GA) secondary to age-related macular (AMD) and other retinal diseases. DESIGN: Histologic survey of donor eyes with and without AMD. Clinical case series with multimodal imaging analysis. PARTICIPANTS: Donor eyes (n = 139; 26 with early AMD, 13 with GA, 40 with nAMD, 52 with a healthy macula, and 8 with other or unknown characteristics) and 41 eyes of 28 participants with GA (n = 16), nAMD (n = 8), Stargardt disease (n = 4), cone dystrophy (n = 2), pachychoroid spectrum (n = 6), choroidal hemangioma (n = 1), and healthy eyes (n = 4)...
April 3, 2018: Ophthalmology
https://www.readbyqxmd.com/read/29625472/visual-cortex-activation-in-patients-with-stargardt-disease
#2
Paolo Melillo, Anna Prinster, Valentina Di Iorio, Gaia Olivo, Francesco Maria D'Alterio, Sirio Cocozza, Ada Orrico, Mario Quarantelli, Francesco Testa, Arturo Brunetti, Francesca Simonelli
Purpose: Primary visual cortex (PVC) contains a retinotopic map in which the central visual field (CVF) is highly magnified compared to the peripheral field. Several studies have used functional magnetic resonance imaging (fMRI) in patients with macular degeneration to assess the reorganization of visual processing in relationship with the development of extrafoveal preferred retinal locus (PRL). We evaluated the functional response in PVC and its correlation with retinal parameters in patients with Stargardt disease due to ABCA4 mutations (STGD1)...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29602770/lipocalin-2-plays-an-important-role-in-regulating-inflammation-in-retinal-degeneration
#3
Tanu Parmar, Vipul M Parmar, Lindsay Perusek, Anouk Georges, Masayo Takahashi, John W Crabb, Akiko Maeda
It has become increasingly important to understand how retinal inflammation is regulated because inflammation plays a role in retinal degenerative diseases. Lipocalin 2 (LCN2), an acute stress response protein with multiple innate immune functions, is increased in ATP-binding cassette subfamily A member 4 ( Abca4 ) -/- retinol dehydrogenase 8 ( Rdh8 ) -/- double-knockout mice, an animal model for Stargardt disease and age-related macular degeneration (AMD). To examine roles of LCN2 in retinal inflammation and degeneration, Lcn2-/- Abca4-/- Rdh8-/- triple-knockout mice were generated...
March 30, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29576896/stem-cell-treatment-in-retinal-diseases-recent-developments
#4
REVIEW
Ayşe Öner
Stem cells are undifferentiated cells which have the ability to self-renew and differentiate into mature cells. They are highly proliferative, implying that an unlimited number of mature cells can be generated from a given stem cell source. On this basis, stem cell replacement therapy has been evaluated in recent years as an alternative for various pathologies. Degenerative retinal diseases cause progressive visual decline which originates from continuing loss of photoreceptor cells and outer nuclear layers...
February 2018: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/29542350/pharmacotherapy-of-retinal-disease-with-visual-cycle-modulators
#5
Rehan M Hussain, Ninel Z Gregori, Thomas A Ciulla, Byron L Lam
Pharmacotherapy with visual cycle modulators (VCMs) is under investigation for retinitis pigmentosa (RP), Leber congenital amaurosis (LCA), Stargardt macular dystrophy (SMD) and nonexudative age-related macular degeneration (AMD), all blinding diseases that lack effective treatment options. Areas covered: The authors review investigational VCMs, including oral retinoids, 9-cis-retinyl-acetate (zuretinol) and 9-cis-β-carotene, which restore 11-cis-retinal levels in RP and LCA caused by LRAT and RPE65 gene mutations, and may improve visual acuity and visual fields...
March 15, 2018: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29526278/identification-and-rescue-of-splice-defects-caused-by-two-neighboring-deep-intronic-abca4-mutations-underlying-stargardt-disease
#6
Silvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M Bax, Carel B Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W J Collin, Frans P M Cremers
Sequence analysis of the coding regions and splice site sequences in inherited retinal diseases is not able to uncover ∼40% of the causal variants. Whole-genome sequencing can identify most of the non-coding variants, but their interpretation is still very challenging, in particular when the relevant gene is expressed in a tissue-specific manner. Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown. By generating photoreceptor precursor cells (PPCs) from fibroblasts obtained from individuals with STGD1, we demonstrated that two neighboring deep-intronic ABCA4 variants (c...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29473871/impaired-cargo-clearance-in-the-retinal-pigment-epithelium-rpe-underlies-irreversible-blinding-diseases
#7
REVIEW
Eloise Keeling, Andrew J Lotery, David A Tumbarello, J Arjuna Ratnayaka
Chronic degeneration of the Retinal Pigment Epithelium (RPE) is a precursor to pathological changes in the outer retina. The RPE monolayer, which lies beneath the neuroretina, daily internalises and digests large volumes of spent photoreceptor outer segments. Impaired cargo handling and processing in the endocytic/phagosome and autophagy pathways lead to the accumulation of lipofuscin and pyridinium bis-retinoid A2E aggregates and chemically modified compounds such as malondialdehyde and 4-hydroxynonenal within RPE...
February 23, 2018: Cells
https://www.readbyqxmd.com/read/29461686/atp-binding-cassette-subfamily-a-member-4-intronic-variants-c-4773-3a-g-and-c-5461-10t-c-cause-stargardt-disease-due-to-defective-splicing
#8
Frida Jonsson, Ida Maria Westin, Lennart Österman, Ola Sandgren, Marie Burstedt, Monica Holmberg, Irina Golovleva
PURPOSE: Inherited retinal dystrophies (IRDs) represent a group of progressive conditions affecting the retina. There is a great genetic heterogeneity causing IRDs, and to date, more than 260 genes are associated with IRDs. Stargardt disease, type 1 (STGD1) or macular degeneration with flecks, STGD1 represents a disease with early onset, central visual impairment, frequent appearance of yellowish flecks and mutations in the ATP-binding cassette subfamily A, member 4 (ABCA4) gene. A large number of intronic sequence variants in ABCA4 have been considered pathogenic although their functional effect was seldom demonstrated...
February 20, 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29422768/retinal-phenotypic-characterization-of-patients-with-abca4-retinopathydue-to-the-homozygous-p-ala1773val-mutation
#9
Salvador López-Rubio, Oscar F Chacon-Camacho, Rodrigo Matsui, Dalia Guadarrama-Vallejo, Mirena C Astiazarán, Juan C Zenteno
Purpose: To describe the retinal clinical features of a group of Mexican patients with Stargardt disease carrying the uncommon p.Ala1773Val founder mutation in ABCA4. Methods: Ten patients carrying the p.Ala1773Val mutation, nine of them homozygously, were included. Visual function studies included best-corrected visual acuity, electroretinography, Goldmann kinetic visual fields, and full-field electroretinography (ERG). In addition, imaging studies, such as optical coherence tomography (OCT), short-wave autofluorescence imaging, and quantitative analyses of hypofluorescence, were performed in each patient...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29417145/stargardt-phenotype-associated-with-two-elovl4-promoter-variants-and-elovl4-downregulation-new-possible-perspective-to-etiopathogenesis
#10
Luigi Donato, Concetta Scimone, Carmela Rinaldi, Pasquale Aragona, Silvana Briuglia, Angela D'Ascola, Rosalia D'Angelo, Antonina Sidoti
Purpose: Stargardt disease (STGD) is the most common form of inherited juvenile macular degeneration. It is inherited as autosomal recessive trait (STGD1), although STGD3 and STGD4 are inherited as autosomal dominant inheritance pattern. STGD3 is caused by mutations in the elongation of very long-chain fatty acids-like 4 (ELOVL4) gene encoding for a very long-chain fatty acid elongase. Mutations lead to a truncated Elovl4, lacking of a dilysine motif necessary for retention of transmembrane proteins in the endoplasmic reticulum...
February 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29416601/genetic-identification-and-molecular-modeling-characterization-reveal-a-novel-prom1-mutation-in-stargardt4-like-macular-dystrophy
#11
Saber Imani, Jingliang Cheng, Marzieh Dehghan Shasaltaneh, Chunli Wei, Lisha Yang, Shangyi Fu, Hui Zou, Md Asaduzzaman Khan, Xianqin Zhang, Hanchun Chen, Dianzheng Zhang, Chengxia Duan, Hongbin Lv, Yumei Li, Rui Chen, Junjiang Fu
Stargardt disease-4 (STGD4) is an autosomal dominant complex, genetically heterogeneous macular degeneration/dystrophy (MD) disorder. In this paper, we used targeted next generation sequencing and multiple molecular dynamics analyses to identify and characterize a disease-causing genetic variant in four generations of a Chinese family with STGD4-like MD. We found a novel heterozygous missense mutation, c.734T>C (p.L245P) in the PROM1 gene. Structurally, this mutation most likely impairs PROM1 protein stability, flexibility, and amino acid interaction network after changing the amino acid residue Leucine into Proline in the basic helix-loop-helix leucine zipper domain...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29392585/timing-of-cognitive-decline-in-cln3-disease
#12
Willemijn F E Kuper, Claudia van Alfen, Roeliene H Rigterink, Sabine A Fuchs, Maria M van Genderen, Peter M van Hasselt
BACKGROUND: CLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease. METHODS: Early neurocognitive functioning in CLN3 disease was analyzed using age at onset of visual and cognitive decline and IQ scores from literature-derived patient descriptions, supplemented with IQ scores and school history from a retrospective referral center cohort...
February 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29386879/full-field-erg-as-a-predictor-of-the-natural-course-of-abca4-associated-retinal-degenerations
#13
Marion Schroeder, Ulrika Kjellström
Purpose: To assess retinal function in combination with the retinal structure in ABCA4-associated retinal degenerations. Moreover, to evaluate the possibility of predicting the natural course of these disorders. Methods: 34 patients with Stargardt disease or cone rod dystrophy carrying confirmed mutations in ABCA4 were selected from our retinitis pigmentosa (RP) register. Sequence analysis of the entire coding region of the ABCA4 gene was performed. The patients were subdivided into three groups based on their most recent visual fields...
2018: Molecular Vision
https://www.readbyqxmd.com/read/29377748/long-term-follow-up-of-autosomal-dominant-stargardt-macular-dystrophy-stgd3-subjects-enrolled-in-a-fish-oil-supplement-interventional-trial
#14
Rene Choi, Aruna Gorusupudi, Paul S Bernstein
BACKGROUND: Earlier studies have raised the notion that docosahexaenoic acid (DHA) and eicosapentaenoic acid (EPA) supplementation could be a useful intervention in autosomal dominant Stargardt macular dystrophy (STGD3). We sought to assess whether fish oil supplementation has a beneficial effect on the clinical course of STGD3 secondary to a mutation in the ELOVL4 gene. MATERIALS AND METHODS: Eleven patients with STGD3 were enrolled in an 8-year open-label, clinical interventional study of over-the-counter fish oil supplements at a recommended daily dose of 650 mg EPA and 350 mg DHA (NCT00420602)...
January 29, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29358124/a2e-associated-cell-death-and-inflammation-in-retinal-pigmented-epithelial-cells-from-human-induced-pluripotent-stem-cells
#15
Vipul M Parmar, Tanu Parmar, Eisuke Arai, Lindsay Perusek, Akiko Maeda
Accumulation of lipofuscin in the retinal pigmented epithelium (RPE) is observed in retinal degenerative diseases including Stargardt disease and age-related macular degeneration. Bis-retinoid N-retinyl-N-retinylidene ethanolamine (A2E) is a major component of lipofuscin. A2E has been implicated in RPE atrophy and retinal inflammation; however, mice with A2E accumulation display only a mild retinal phenotype. In the current study, human iPSC-RPE (hiPSC-RPE) cells were generated from healthy individuals to examine effects of A2E in human RPE cells...
March 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29304098/edi-oct-evaluation-of-choroidal-thickness-in-stargardt-disease
#16
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
#17
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...
April 2018: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/29260499/choroidal-osteoma-and-pattern-dystrophy-of-retinal-pigment-epithelium
#18
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/-potential-of-gene-editing-and-induced-pluripotent-stem-cells-ipscs-in-treatment-of-retinal-diseases
#19
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
#20
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
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