Search results for "Eye Disease and Disorders of Vision"

showing 5 items of 5 documents

A new vicious cycle involving glutamate excitotoxicity, oxidative stress and mitochondrial dynamics

2011

Glutamate excitotoxicity leads to fragmented mitochondria in neurodegenerative diseases, mediated by nitric oxide and S-nitrosylation of dynamin-related protein 1, a mitochondrial outer membrane fission protein. Optic atrophy gene 1 (OPA1) is an inner membrane protein important for mitochondrial fusion. Autosomal dominant optic atrophy (ADOA), caused by mutations in OPA1, is a neurodegenerative disease affecting mainly retinal ganglion cells (RGCs). Here, we showed that OPA1 deficiency in an ADOA model influences N-methyl-D-aspartate (NMDA) receptor expression, which is involved in glutamate excitotoxicity and oxidative stress. Opa1enu/+mice show a slow progressive loss of RGCs, activation …

Retinal Ganglion CellsCancer ResearchReceptor expressionExcitotoxicityApoptosisNeurodegenerativeMitochondrionEyemedicine.disease_causeGTP PhosphohydrolasesMice0302 clinical medicineReceptorsoxidative stressPhosphorylationbcl-2-Associated X Protein0303 health sciencesbiologyGlutamate receptorMitochondriaUp-RegulationCell biologymitochondrial fusionAutosomal DominantOriginal Articlebcl-Associated Death ProteinMitochondrial fissionN-Methyl-D-AspartateBiotechnologymitochondrial fragmentationOncology and CarcinogenesisImmunologybcl-X ProteinSOD2Glutamic AcidReceptors N-Methyl-D-AspartateNMDA receptorsCell Line03 medical and health sciencesCellular and Molecular NeuroscienceBcl-2-associated X proteinOptic Atrophy Autosomal DominantmedicineAnimalsEye Disease and Disorders of Vision030304 developmental biologySuperoxide DismutaseNeurosciencesCell BiologyMolecular biologyeye diseasesOxidative StressOptic AtrophyMutationbiology.proteinOPA1 mutationBiochemistry and Cell Biologysense organsglutamate excitotoxicity030217 neurology & neurosurgeryCell Death & Disease
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Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Intraocular Pressure Telemetry for Managing Glaucoma during the COVID-19 Pandemic

2021

Purpose To evaluate in glaucoma patients the feasibility and use of remote monitoring of intraocular pressure (IOP) with an implanted telemetry sensor during the coronavirus disease 2019 (COVID-19) lockdown. Design Cross-sectional study. Participants Patients previously implanted with a telemetric IOP sensor (Eyemate; Implandata GmbH) were included. Methods Intraocular pressure measurements acquired by the patients during the lockdown were collected by physicians who were located remotely. A questionnaire was sent to 10 participating study centers to evaluate the clinical impact of remote monitoring of IOP via the IOP sensor system. Main Outcome Measures Number of patients who obtained home…

MaleAgingIntraocular pressuregenetic structuresCross-sectional studyIntraocular pressureOffice visitsGlaucomaComorbidityNeurodegenerative01 natural sciences0302 clinical medicineTelemetryTelemetryProspective StudiesProspective cohort studyCOVID-19 coronavirus disease 2019Sensor systemInfectiousGeneral MedicineEquipment DesignMiddle AgedFemaleSwitzerlandmedicine.medical_specialtyCoronavirus disease 2019 (COVID-19)MonitoringClinical Trials and Supportive ActivitiesBioengineeringTonometry03 medical and health sciencesTonometry OcularDisease TransmissionClinical ResearchOcularOphthalmologyLockdownmedicineDisease Transmission InfectiousHumans0101 mathematicsEye Disease and Disorders of VisionPandemicsbusiness.industrySARS-CoV-2IOP010102 general mathematicsNeurosciencesCOVID-19Glaucomamedicine.diseaseIOP intraocular pressureeye diseasesFull-length articles and Review articlesUnited KingdomCross-Sectional Studies030221 ophthalmology & optometrysense organsbusinessFollow-Up StudiesOphthalmology. Glaucoma
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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

2015

Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, …

Aginggenetic structuresEpidemiologyOptic diskGlaucomaGenome-wide association studyNeurodegenerativeEyeOptic neuropathyOptic Nerve DiseasesNERVEGWASGenetics (clinical)GeneticsNEIGHBORHOOD ConsortiumATOH7Asiansmedicine.anatomical_structurecup areaOptic nervePublic Health and Health ServicesOPEN-ANGLE GLAUCOMATRAITSOptic discAsian Continental Ancestry Groupmedicine.medical_specialtyOpen angle glaucomaEuropean Continental Ancestry GroupOptic DiskQuantitative Trait LociBiologyOCULAR-TISSUESRetinal ganglionArticleWhite PeopleAsian PeopleOphthalmologymedicineGeneticsHumansdisc areaEye Disease and Disorders of VisionWhitesHuman GenomeNeurosciencesGlaucomaGENOTYPESmedicine.diseaseGENEeye diseasesSIZEglaucomasense organsGenome-Wide Association Study
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Effect of Varying Levels of Glare on Contrast Sensitivity Measurements of Young Healthy Individuals Under Photopic and Mesopic Vision

2018

Contrast sensitivity (CS), the ability to detect small spatial changes of luminance, is a fundamental aspect of vision. However, while visual acuity is commonly measured in eye clinics, CS is often not assessed. At issue is that tests of CS are not highly standardized in the field and that, in many cases, optotypes used are not sensitive enough to measure graduations of performance and visual abilities within the normal range. Here, in order to develop more sensitive measures of CS, we examined how CS is affected by different combinations of glare and ambient lighting in young healthy participants. We found that low levels of glare have a relatively small impact on vision under both photopi…

medicine.medical_specialtyVisual acuitygenetic structuresEcological validityMesopic visionmedia_common.quotation_subjectcontrast sensitivity functionlcsh:BF1-990AudiologyEyeLuminanceVisual processing03 medical and health sciences0302 clinical medicineglare effectClinical ResearchmedicineContrast (vision)PsychologyEye Disease and Disorders of VisionGeneral Psychologymedia_commonOriginal Researchvisual function measurementNeurosciencesGlare (vision)mesopic visioneye diseasesphotopic visionlcsh:Psychology030221 ophthalmology & optometryCognitive Sciencesmedicine.symptomPsychology030217 neurology & neurosurgeryPhotopic visionFrontiers in Psychology
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