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https://www.readbyqxmd.com/read/28820649/targets-of-neuroprotection-in-glaucoma
#1
Shaoqing He, Dorota L Stankowska, Dorette Z Ellis, Raghu R Krishnamoorthy, Thomas Yorio
Progressive neurodegeneration of the optic nerve and the loss of retinal ganglion cells is a hallmark of glaucoma, the leading cause of irreversible blindness worldwide, with primary open-angle glaucoma (POAG) being the most frequent form of glaucoma in the Western world. While some genetic mutations have been identified for some glaucomas, those associated with POAG are limited and for most POAG patients, the etiology is still unclear. Unfortunately, treatment of this neurodegenerative disease and other retinal degenerative diseases is lacking...
August 18, 2017: Journal of Ocular Pharmacology and Therapeutics
https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#2
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28820347/association-between-eye-diagnosis-and-positive-syphilis-test-results-in-a-large-urban-sexually-transmitted-infection-primary-care-clinic-population
#3
Ann-Marie Lobo, Yan Gao, Laura Rusie, Magda Houlberg, Supriya D Mehta
In 2015, the Centers for Disease Control and Prevention (CDC) and the American Academy of Ophthalmology (AAO) released clinical advisories on rising cases of ocular syphilis. We examined the association between eye disease and syphilis infection among primary care and sexually transmitted infection (STI) clinic patients attending an urban lesbian, gay, bisexual, transgender (LGBT) health center. We conducted a retrospective medical record review of all patients who underwent syphilis testing at Howard Brown Health between 1 January 2010 and 31 December 2015...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28819514/-fortuitous-detection-of-composite-heterozygous-s-c-sickle-cell-disease
#4
Asmâa Biaz, Maroua Neji, Yousra Ajhoun, Samira El Machtani Idrissi, Abdellah Dami, Karim Reda, Zohra Ouzzif, Sanae Bouhsain
Composite S/C sickle cell disease accounts for 20%-30% of major sickle cell syndromes. We report a case of fortuitous detection of composite heterozygous S/C sickle cell disease in the context of retinal detachment. The patient had been hospitalized in the Department of Ophthalmology for treatment-resistant decreased visual acuity detected 06 months before. The patient's clinical history was marked by total hip replacement (THR) twelve years before. Our study highlights the wide clinical variability of sickle cell disease underlying the importance of early screening and adapted clinical monitoring of patients at-risk, in order to avoid its evolution toward irreversible organic sequelae such as sickle cell retinopathy...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28819299/the-correlation-between-crb1-variants-and-the-clinical-severity-of-brazilian-patients-with-different-inherited-retinal-dystrophy-phenotypes
#5
Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing. CRB1 is one of many genes analyzed in molecular diagnosis for inherited retinal dystrophy. Crumbs homolog-1 protein encoded by CRB1 is important for cell-to-cell contact, polarization of epithelial cells and the morphogenesis of photoreceptors. Pathogenic variants in CRB1 lead to a huge variety of phenotypes ranging from milder forms of inherited retinal dystrophy, such as retinitis pigmentosa to more severe phenotypes such as Leber congenital amaurosis...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28818533/the-association-between-bouted-and-non-bouted-physical-activity-on-retinopathy-prevalence
#6
Emily Frith, Paul D Loprinzi
OBJECTIVE: We evaluated the specific differential association between non-bouted, lifestyle physical activities (vs. structured exercise; i.e., bouted physical activity) on retinopathy prevalence among a national sample of the broader U.S. adult population. METHODS: Data from the 2005-2006 National Health and Nutrition Examination Survey (NHANES) was used to identify 1501 adults, between 40 and 85years. Bouted and non-bouted physical activities were assessed using objective accelerometer monitoring...
August 14, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28817571/automated-segmentation-of-mouse-oct-volumes-asimov-validation-clinical-study-of-a-light-damage-model
#7
Bhavna Josephine Antony, Byung-Jin Kim, Andrew Lang, Aaron Carass, Jerry L Prince, Donald J Zack
The use of spectral-domain optical coherence tomography (SD-OCT) is becoming commonplace for the in vivo longitudinal study of murine models of ophthalmic disease. Longitudinal studies, however, generate large quantities of data, the manual analysis of which is very challenging due to the time-consuming nature of generating delineations. Thus, it is of importance that automated algorithms be developed to facilitate accurate and timely analysis of these large datasets. Furthermore, as the models target a variety of diseases, the associated structural changes can also be extremely disparate...
2017: PloS One
https://www.readbyqxmd.com/read/28816862/unilateral-optic-neuritis-and-central-retinal-vasculitis-due-to-ocular-syphilis
#8
Murtaza S Khan, Dulanji K Kuruppu, Tanav A Popli, Ramana S Moorthy, Devin D Mackay
PURPOSE: Report a case of concurrent unilateral optic neuritis and central retinal artery occlusion as the presenting signs of syphilis. METHODS: A case report of a 22-year-old man with progressive unilateral vision loss. RESULTS: With no known previous history of syphilis, genital lesions, or other extraocular manifestations, the patient presented with pain with eye movements and decreased color vision. His vision dramatically worsened after a course of oral steroids...
August 14, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28815176/strategies-for-retinal-cell-generation-from-human-pluripotent-stem-cells
#9
REVIEW
Lindsey S Weed, Jason A Mills
Induced pluripotent stem cells (iPSCs) are specialized self-renewing cells that are generated by exogenously expressing pluripotency-associated transcription factors in somatic cells such as fibroblasts, peripheral blood mononuclear cells, or lymphoblastoid cell lines (LCLs). iPSCs are functionally similar to naturally pluripotent embryonic stem cells (ESCs) in their capacity to propagate indefinitely and potential to differentiate into all human cell types, and are devoid of the associated ethical complications of origin...
2017: Stem Cell Investigation
https://www.readbyqxmd.com/read/28814750/the-linear-artifact-in-enhanced-depth-imaging-spectral-domain-optical-coherence-tomography
#10
Chengguo Zuo, Lan Mi, Shasha Yang, Xinxing Guo, Hui Xiao, Xing Liu
Optical coherence tomography (OCT) is a valuable ancillary test in the diagnosis and management of chorioretinal disease. The evaluation of choroid thickness using OCT has become the focus of clinical applications. We report a linear artifact that acts as a confounding factor in choroidal thickness measurements by enhanced depth imaging OCT. We found that the linear artifact is located stably at a depth of 485 μm beneath the retinal pigment epithelium in 81.88% of subjects. The study suggested that the linear artifact was a confounding factor in assessing choroidal thickness and that caution should be used in the interpretation of the choroidal thickness, especially when it is approximately 485 μm...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814744/monocyte-infiltration-and-proliferation-reestablish-myeloid-cell-homeostasis-in-the-mouse-retina-following-retinal-pigment-epithelial-cell-injury
#11
Wenxin Ma, Yikui Zhang, Chun Gao, Robert N Fariss, Johnny Tam, Wai T Wong
Age-related macular degeneration (AMD), a leading contributor of vision loss, currently lacks comprehensive treatment. While AMD histopathology involves retinal pigment epithelium (RPE) injury associated with immune cell infiltration, the nature of immune cell responses to RPE injury remains undefined. We induced RPE injury pharmacologically and genetically in transgenic mouse models in which microglia and systemic monocytes were separately tagged, enabling a spatial and temporal dissection of the relative contributions of microglia vs...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28814713/gelsolin-dysfunction-causes-photoreceptor-loss-in-induced-pluripotent-cell-and-animal-retinitis-pigmentosa-models
#12
Roly Megaw, Hashem Abu-Arafeh, Melissa Jungnickel, Carla Mellough, Christine Gurniak, Walter Witke, Wei Zhang, Hemant Khanna, Pleasantine Mill, Baljean Dhillon, Alan F Wright, Majlinda Lako, Charles Ffrench-Constant
Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause X-linked RP (XLRP), an untreatable, inherited retinal dystrophy that leads to premature blindness. RPGR localises to the photoreceptor connecting cilium where its function remains unknown. Here we show, using murine and human induced pluripotent stem cell models, that RPGR interacts with and activates the actin-severing protein gelsolin, and that gelsolin regulates actin disassembly in the connecting cilium, thus facilitating rhodopsin transport to photoreceptor outer segments...
August 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28814675/retinal-amyloid-pathology-and-proof-of-concept-imaging-trial-in-alzheimer-s-disease
#13
Yosef Koronyo, David Biggs, Ernesto Barron, David S Boyer, Joel A Pearlman, William J Au, Shawn J Kile, Austin Blanco, Dieu-Trang Fuchs, Adeel Ashfaq, Sally Frautschy, Gregory M Cole, Carol A Miller, David R Hinton, Steven R Verdooner, Keith L Black, Maya Koronyo-Hamaoui
BACKGROUND: Noninvasive detection of Alzheimer's disease (AD) with high specificity and sensitivity can greatly facilitate identification of at-risk populations for earlier, more effective intervention. AD patients exhibit a myriad of retinal pathologies, including hallmark amyloid β-protein (Aβ) deposits. METHODS: Burden, distribution, cellular layer, and structure of retinal Aβ plaques were analyzed in flat mounts and cross sections of definite AD patients and controls (n = 37)...
August 17, 2017: JCI Insight
https://www.readbyqxmd.com/read/28814412/long-term-outcomes-with-as-needed-aflibercept-in-diabetic-macular-oedema-2-year-outcomes-of-the-endurance-extension-study
#14
Charles C Wykoff, William C Ou, Rahul N Khurana, David M Brown, W Lloyd Clark, David S Boyer
BACKGROUND/AIMS: To evaluate the efficacy and safety of individualised 2.0 mg intravitreal aflibercept retreatment for diabetic macular oedema (DME) through the fifth year of management. METHODS: This is a phase IV, 2-year, open-label extension study. Sixty patients completing the 3-year VISTA DME (Study of Intravitreal Aflibercept Injection in Patients With Diabetic Macular Edema) phase III trial enrolled in the ENDURANCE (Long-Term Efficacy and Safety of Intravitreal Aflibercept for the Treatment of DME in Subjects Who Completed the VISTA DME Trial) extension study...
August 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28814409/identification-of-imaging-features-that-determine-quality-and-repeatability-of-retinal-capillary-plexus-density-measurements-in-oct-angiography
#15
Beau J Fenner, Gavin Sw Tan, Anna Cs Tan, Ian Ys Yeo, Tien Yin Wong, Gemmy Cm Cheung
PURPOSE: Optical coherence tomography angiography (OCT-A) potentially allows for rapid and non-invasive quantification of retinal capillary plexus density in various disease states. This study aims to identify the key features that influenced the repeatability of OCT-A measurements. METHODS: We obtained OCT-A images on two separate visits in 44 healthy eyes from 44 subjects, each imaged with using the Topcon DRI OCT Triton imaging system. The parafoveal vessel density within a 1...
August 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28814287/early-onset-coats-disease-initially-treated-as-unilateral-rop-at-39%C3%A2-weeks-postmenstrual-age-a-case-report
#16
Jie Peng, Qi Zhang, Chunli Chen, Qiujing Huang, Yian Li, Peiquan Zhao
BACKGROUND: This is the youngest case of Coats' disease, in terms of postmenstrual age (PMA), to be reported in the literature. This case highlights the remarkable variations in the clinical manifestations and the very early onset of Coats' disease. This case is unusual in both the age of onset and atypical clinical features, which resemble retinopathy of prematurity (ROP). CASE PRESENTATION: We report a case of a preterm boy born at 31 5/7 weeks gestational age who presented with atypical Coats' disease and was initially diagnosed as having ROP of only one eye at 39 weeks PMA...
August 16, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28813472/an-intronic-line-1-insertion-in-mertk-is-strongly-associated-with-retinopathy-in-swedish-vallhund-dogs
#17
Richard Everson, Louise Pettitt, Oliver P Forman, Olivia Dower-Tylee, Bryan McLaughlin, Saija Ahonen, Maria Kaukonen, András M Komáromy, Hannes Lohi, Cathryn S Mellersh, Jane Sansom, Sally L Ricketts
The domestic dog segregates a significant number of inherited progressive retinal diseases, several of which mirror human retinal diseases and which are collectively termed progressive retinal atrophy (PRA). In 2014, a novel form of PRA was reported in the Swedish Vallhund breed, and the disease was mapped to canine chromosome 17. The causal mutation was not identified, but expression analyses of the retinas of affected Vallhunds demonstrated a 6-fold increased expression of the MERTK gene compared to unaffected dogs...
2017: PloS One
https://www.readbyqxmd.com/read/28812418/neurotoxicity-of-cgmp-in-the-vertebrate-retina-from-the-initial-research-on-rd-mutant-mice-to-zebrafish-genetic-approaches
#18
Maria Iribarne, Ichiro Masai
Zebrafish are an excellent animal model for research on vertebrate development and human diseases. Sophisticated genetic tools including large-scale mutagenesis methodology make zebrafish useful for studying neuronal degenerative diseases. Here, we review zebrafish models of inherited ophthalmic diseases, focusing on cGMP metabolism in photoreceptors. cGMP is the second messenger of phototransduction, and abnormal cGMP levels are associated with photoreceptor death. cGMP concentration represents a balance between cGMP phosphodiesterase 6 (PDE6) and guanylate cyclase (GC) activities in photoreceptors...
August 16, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28812133/-watchful-waiting-as-a-therapeutic-principle-for-diseases-of-the-vitreoretinal-interface
#19
REVIEW
H Hoerauf, B Kirchhof
Elective surgery of the vitreoretinal interface is currently the most common reason for vitrectomy in Germany. The evaluation and correct interpretation of spectral domain optical coherence tomography (SD-OCT) images is of great importance but the indications for vitrectomy in macular surgery should be based more on patient symptoms and not only the OCT findings. Watchful waiting is highlighted as an alternative therapeutic option in individual patients. This article addresses a number of aspects and discrepancies between findings and patients' level of suffering based on binocular symptoms...
August 15, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28811934/the-estimates-of-retinal-ganglion-cell-counts-performed-better-than-isolated-structure-and-functional-tests-for-glaucoma-diagnosis
#20
Bruno L B Esporcatte, Andrea C Kara-José, Luiz Alberto S Melo, Luciano M Pinto, Ivan M Tavares
PURPOSE: To evaluate the diagnostic accuracy of retinal ganglion cell (RGC) counts as estimated by combining data from standard automated perimetry (SAP) and spectral domain optical coherence tomography (SD-OCT). METHODS: Healthy individuals and glaucoma patients were included in this cross-sectional study. All eyes underwent 24-2 SITA SAP and structural imaging tests. RGC count estimates were obtained using a previously described algorithm, which combines estimates of RGC numbers from SAP sensitivity thresholds and SD-OCT retinal nerve fiber layer (RNFL) average thickness...
2017: Journal of Ophthalmology
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