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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/29138701/valsalva-related-subretinal-hemorrhage-as-a-presenting-symptom-of-polypoidal-choroidal-vasculopathy
#2
Yousif Subhi, Torben L Sørensen
Purpose: To describe a case of Valsalva-related subretinal hemorrhage as a presenting symptom of polypoidal choroidal vasculopathy (PCV). The patient refrained from treatment against our best advice, and thus this is also a rare case of the natural course of an untreated PCV. Methods: Case report. Results: A 66-year-old female with a respiratory infection coughed intensely until exhaustion, after which she developed visual symptoms on the right eye...
2017: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/29135938/effects-of-a-lutein-and-zeaxanthin-intervention-on-cognitive-function-a-randomized-double-masked-placebo-controlled-trial-of-younger-healthy-adults
#3
Lisa M Renzi-Hammond, Emily R Bovier, Laura M Fletcher, L Stephen Miller, Catherine M Mewborn, Cutter A Lindbergh, Jeffrey H Baxter, Billy R Hammond
Background: Past studies have suggested that higher lutein (L) and zeaxanthin (Z) levels in serum and in the central nervous system (as quantified by measuring macular pigment optical density, MPOD) are related to improved cognitive function in older adults. Very few studies have addressed the issue of xanthophylls and cognitive function in younger adults, and no controlled trials have been conducted to date to determine whether or not supplementation with L + Z can change cognitive function in this population...
November 14, 2017: Nutrients
https://www.readbyqxmd.com/read/29135888/exit-strategy-in-a-treat-and-extend-regimen-for-exudative-age-related-macular-degeneration
#4
Petra Arendt, Siqing Yu, Marion R Munk, Andreas Ebneter, Sebastian Wolf, Martin S Zinkernagel
PURPOSE: To evaluate the outcome of an exit strategy in a treat-and-extend regimen for neovascular age-related macular degeneration. METHODS: Five hundred and ninety-eight eyes of 488 patients with neovascular age-related macular degeneration receiving intravitreal anti-vascular endothelial growth factor injections according to a treat-and-extend regimen were included in this retrospective study. A treat-and-extend regimen with either interval extension by 2 weeks or shortening by 1 week was used...
November 9, 2017: Retina
https://www.readbyqxmd.com/read/29135799/peripapillary-pachychoroid-syndrome
#5
Nopasak Phasukkijwatana, K Bailey Freund, Rosa Dolz-Marco, Mayss Al-Sheikh, Pearse A Keane, Catherine A Egan, Sandeep Randhawa, Jay M Stewart, Qingyun Liu, Alex P Hunyor, Allan Kreiger, Aaron Nagiel, Robert Lalane, Mansour Rahimi, Won Ki Lee, Lee Merrill Jampol, David Sarraf
PURPOSE: To describe the features of peripapillary pachychoroid syndrome (PPS), a novel pachychoroid disease spectrum (PDS) entity. METHODS: Medical records of 31 eyes (16 patients) with choroidal thickening associated with intraretinal and/or subretinal fluid in the nasal macula extending from the disk were reviewed (patients with PPS). Choroidal thickness was compared with 2 age-matched cohorts: typical PDS (17 eyes with central serous chorioretinopathy or pachychoroid neovasculopathy) and 19 normal eyes...
November 10, 2017: Retina
https://www.readbyqxmd.com/read/29135322/retinal-structure-in-pre-clinical-age-related-macular-degeneration
#6
S Nusinowitz, Y Wang, P Kim, S Habib, R Baron, Y Conley, M Gorin
PURPOSE: To determine, if there are identifiable retinal structural changes associated with genetic risk for age-related macular degeneration (AMD). MATERIALS AND METHODS: Seventy-three subjects (range 51.5 to 68.9 years) participated in this prospective study. Subjects were recruited based on the presence of a family history of AMD in one or both parents. All participants underwent a complete ophthalmic exam and imagery for staging of disease severity and genetic testing to assess genetic risk for AMD development...
November 14, 2017: Current Eye Research
https://www.readbyqxmd.com/read/29132135/increased-th1-th17-responses-contribute-to-low-grade-inflammation-in-age-related-macular-degeneration
#7
Jiajia Chen, Wenzhan Wang, Qiuming Li
BACKGROUND/AIMS: Age-related macular degeneration (AMD) is the primary cause of senior blindness in developed countries. Mechanisms underlying initiation and development of AMD remained known. METHODS: We examined the CD4+ T cell compartments and their functions in AMD patients. RESULTS: AMD patients presented significantly higher frequencies of interferon (IFN)-γ-expressing and interleukin (IL)-17-expressing CD4+ T cells than healthy controls...
November 13, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29130626/age-related-macular-degeneration-using-morphological-predictors-to-modify-current-treatment-protocols
#8
REVIEW
Mohammed Ashraf, Ahmed Souka, Ron A Adelman
To assess predictors of treatment response in neovascular age-related macular degeneration (AMD) in an attempt to develop a patient-centric treatment algorithm. We conducted a systematic search using PubMed, EMBASE and Web of Science for prognostic indicators/predictive factors with the key words: 'age related macular degeneration', 'neovascular AMD', 'choroidal neovascular membrane (CNV)', 'anti-vascular endothelial growth factor (anti-VEGF)', 'aflibercept', 'ranibizumab', 'bevacizumab', 'randomized clinical trials', 'post-hoc', 'prognostic', 'predictive', 'response' 'injection frequency, 'treat and extend (TAE), 'pro re nata (PRN)', 'bi-monthly' and 'quarterly'...
November 11, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29120644/acid-induced-intracellular-dissociation-of-%C3%AE-cyclodextrin-threaded-polyrotaxanes-directed-toward-attenuating-phototoxicity-of-bisretinoids-through-promoting-excretion
#9
Atsushi Tamura, Moe Ohashi, Kei Nishida, Nobuhiko Yui
In the retinal pigment epithelium of patients with age-related macular degeneration (AMD), excess N-retinylidene-N-retinylethanolamine (A2E), a dimer of all-trans-retinal, accumulats to induce inflammatory cytokine secretion and phototoxic effects. Therefore, the reduction of intracellular A2E is a promising approach for the prevention and treatment of AMD. In this study, acid-labile β-cyclodextrin (β-CD)-threaded polyrotaxanes (PRXs) were synthesized and investigated their effects on the removal of A2E accumulated in retinal pigment epithelium cells (ARPE-19) in comparison to nonlabile PRXs and 2-hydroxypropyl β-CD (HP-β-CD) were examined...
November 9, 2017: Molecular Pharmaceutics
https://www.readbyqxmd.com/read/29115605/genetic-variations-in-bestrophin%C3%A2-1-and-associated-clinical-findings-in-two-chinese-patients-with-juvenile%C3%A2-onset-and-adult%C3%A2-onset-best-vitelliform-macular-dystrophy
#10
Ying Lin, Tao Li, Chenghong Ma, Hongbin Gao, Chuan Chen, Yi Zhu, Bingqian Liu, Yu Lian, Ying Huang, Haichun Li, Qingxiu Wu, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Jianhua Ye, Lin Lu
Best vitelliform macular dystrophy (BVMD) is a hereditary retinal disease characterized by the bilateral accumulation of large egg yolk‑like lesions in the sub‑retinal and sub‑retinal pigment epithelium spaces. Macular degeneration in BVMD can begin in childhood or adulthood. The variation in the age of onset is not clearly understood. The present study characterized the clinical characteristics of two Chinese patients with either juvenile‑onset BVMD or adult‑onset BVMD and investigated the underlying genetic variations...
October 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29115489/isorhamnetin-prevents-h2o2%C3%A2-induced-oxidative-stress-in-human-retinal-pigment-epithelial-cells
#11
Jing Wang, Hui-Min Gong, Hui-Hui Zou, Ling Liang, Xin-Yi Wu
Isorhamnetin, a 3‑O‑methylated metabolite of quercetin, exhibits antioxidant effects. However, to the best of our knowledge, no study to date has focused on the effects of isorhamnetin on retinal pigment epithelium (RPE) cells, and its underlying molecular mechanisms. Therefore, the present study aimed to examine the potential protective effect of isorhamnetin against oxidative stress in human RPE cells. The results demonstrated that pretreatment of RPE cells with isorhamnetin significantly protected cell viability against oxidative stress...
October 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29110945/the-progression-of-geographic-atrophy-secondary-to-age-related-macular-degeneration
#12
REVIEW
Monika Fleckenstein, Paul Mitchell, K Bailey Freund, SriniVas Sadda, Frank G Holz, Christopher Brittain, Erin C Henry, Daniela Ferrara
Geographic atrophy (GA) is an advanced form of age-related macular degeneration (AMD) that leads to progressive and irreversible loss of visual function. Geographic atrophy is defined by the presence of sharply demarcated atrophic lesions of the outer retina, resulting from loss of photoreceptors, retinal pigment epithelium (RPE), and underlying choriocapillaris. These lesions typically appear first in the perifoveal macula, initially sparing the foveal center, and over time often expand and coalesce to include the fovea...
October 27, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29105362/monitoring-foveal-sparing-in-geographic-atrophy-with-fluorescence-lifetime-imaging-ophthalmoscopy-a-novel-approach
#13
Lydia Sauer, Matthias Klemm, Sven Peters, Dietrich Schweitzer, Johanna Schmidt, Lukas Kreilkamp, Lisa Ramm, Daniel Meller, Martin Hammer
PURPOSE: To investigate fundus autofluorescence (FAF) lifetimes in geographic atrophy (GA) with a focus on macular pigment (MP) and foveal sparing. METHODS: The study included 35 eyes from 28 patients (mean age 79.2 ± 8.0 years) with GA. A 30° retinal field, centred at the macula, was investigated using fluorescence lifetime imaging ophthalmoscopy (FLIO). The FLIO technology is based on a Heidelberg Engineering Spectralis system. Decays of FAF were detected in a short (498-560 nm, SSC) and long (560-720 nm, LSC) spectral channel...
November 4, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29103793/consensus-definition-for-atrophy-associated-with-age-related-macular-degeneration-on-oct-classification-of-atrophy-report-3
#14
Srinivas R Sadda, Robyn Guymer, Frank G Holz, Steffen Schmitz-Valckenberg, Christine A Curcio, Alan C Bird, Barbara A Blodi, Ferdinando Bottoni, Usha Chakravarthy, Emily Y Chew, Karl Csaky, Ronald P Danis, Monika Fleckenstein, K Bailey Freund, Juan Grunwald, Carel B Hoyng, Glenn J Jaffe, Sandra Liakopoulos, Jordi M Monés, Daniel Pauleikhoff, Philip J Rosenfeld, David Sarraf, Richard F Spaide, Ramin Tadayoni, Adnan Tufail, Sebastian Wolf, Giovanni Staurenghi
PURPOSE: To develop consensus terminology and criteria for defining atrophy based on OCT findings in the setting of age-related macular degeneration (AMD). DESIGN: Consensus meeting. PARTICIPANTS: Panel of retina specialists, image reading center experts, retinal histologists, and optics engineers. METHODS: As part of the Classification of Atrophy Meetings (CAM) program, an international group of experts surveyed the existing literature, performed a masked analysis of longitudinal multimodal imaging for a series of eyes with AMD, and reviewed the results of this analysis to define areas of agreement and disagreement...
November 2, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29101353/in-vivo-multimodal-imaging-of-drusenoid-lesions-in-rhesus-macaques
#15
Glenn Yiu, Eric Tieu, Christian Munevar, Brittany Wong, David Cunefare, Sina Farsiu, Laura Garzel, Jeffrey Roberts, Sara M Thomasy
Nonhuman primates are the only mammals to possess a true macula similar to humans, and spontaneously develop drusenoid lesions which are hallmarks of age-related macular degeneration (AMD). Prior studies demonstrated similarities between human and nonhuman primate drusen based on clinical appearance and histopathology. Here, we employed fundus photography, spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence (FAF), and infrared reflectance (IR) to characterize drusenoid lesions in aged rhesus macaques...
November 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29098804/fundus-autofluorescence-imaging-in-hereditary-retinal-diseases
#16
REVIEW
Francesco Pichi, Emad B Abboud, Nicola G Ghazi, Arif O Khan
Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to non-invasively map changes at the level of the retinal pigment epithelium (RPE)/photoreceptor complex and alterations of macular pigment distribution. This imaging method is based on the visualization of intrinsic fluorophores and may be easily and rapidly used in routine patient care. Excessive accumulation of lipofuscin granules in the lysosomal compartment of RPE cells represents a common downstream pathogenic pathway in various hereditary and complex retinal diseases...
November 2, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29097185/serum-starvation-of-arpe-19-changes-the-cellular-distribution-of-cholesterol-and-fibulin3-in-patterns-reminiscent-of-age-related-macular-degeneration
#17
Dinusha Rajapakse, Katherine Peterson, Sanghamitra Mishra, Graeme Wistow
Retinal pigment epithelium (RPE) has been implicated as key source of cholesterol-rich deposits at Bruch's membrane (BrM) and in drusen in aging human eye. We have shown that serum-deprivation of confluent RPE cells is associated with upregulation of cholesterol synthesis and accumulation of unesterified cholesterol (UC). Here we investigate the cellular processes involved in this response. We compared the distribution and localization of UC and esterified cholesterol (EC); the age-related macular degeneration (AMD) associated EFEMP1/Fibulin3 (Fib3); and levels of acyl-coenzyme A (CoA): cholesterol acyltransferases (ACAT) ACAT1, ACAT2 and Apolipoprotein B (ApoB) in ARPE-19 cells cultured in serum-supplemented and serum-free media...
October 30, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29096998/a-deep-phenotype-association-study-reveals-specific-phenotype-associations-with-genetic-variants-in-age-related-macular-degeneration-age-related-eye-disease-study-2-areds2-report-no-14
#18
Freekje van Asten, Michael Simmons, Ayush Singhal, Tiarnan D Keenan, Rinki Ratnapriya, Elvira Agrón, Traci E Clemons, Anand Swaroop, Zhiyong Lu, Emily Y Chew
PURPOSE: Age-related macular degeneration (AMD), a multifactorial disease with variable phenotypic presentation, was associated with 52 single nucleotide polymorphisms (SNPs) at 34 loci in a genome-wide association study (GWAS). These genetic variants could modulate different biological pathways involved in AMD, contributing to phenotypic variability. To better understand the effects of these SNPs, we performed a deep phenotype association study (DeePAS) in the Age-Related Eye Disease Study 2 (AREDS2), followed by replication using AREDS participants, to identify genotype associations with AMD and non-AMD ocular and systemic phenotypes...
October 30, 2017: Ophthalmology
https://www.readbyqxmd.com/read/29096624/blue-light-filtering-alters-angiogenic-signaling-in-human-retinal-pigmented-epithelial-cells-culture-model
#19
Natalia Vila, Aya Siblini, Evangelina Esposito, Vasco Bravo-Filho, Pablo Zoroquiain, Sultan Aldrees, Patrick Logan, Lluis Arias, Miguel N Burnier
BACKGROUND: Light exposure and more specifically the spectrum of blue light contribute to the oxidative stress in Age-related macular degeneration (AMD). The purpose of the study was to establish whether blue light filtering could modify proangiogenic signaling produced by retinal pigmented epithelial (RPE) cells under different conditions simulating risk factors for AMD. METHODS: Three experiments were carried out in order to expose ARPE-19 cells to white light for 48 h with and without blue light-blocking filters (BLF) in different conditions...
November 2, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29095988/changes-in-extracellular-matrix-cause-rpe-cells-to-make-basal-deposits-and-activate-the-alternative-complement-pathway
#20
Rosario Fernandez-Godino, Kinga M Bujakowska, Eric A Pierce
The design of efficient therapies for age-related macular degeneration (AMD) is limited by our understanding of the pathogenesis of basal deposits, which form between retinal pigment epithelium (RPE) and Bruch's membrane (BrM) early in disease, and involve activation of the complement system. To investigate the roles of BrM, RPE and complement in AMD, we generated abnormal extracellular matrix (ECM) using CRISPR-edited ARPE-19 cells. We introduced to these cells the p.R345W mutation in EFEMP1, which causes early-onset macular degeneration...
October 31, 2017: Human Molecular Genetics
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