Search results for "Eye"

showing 10 items of 2511 documents

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.

2018

Abstract PHARC (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa and Cataracts) (MIM# 612674 ) is an autosomal recessive neurodegenerative disease caused by mutations in the ABHD12 gene. We evaluated two Spanish siblings affected with pes cavus, sensorimotor neuropathy, hearing loss, retinitis pigmentosa and juvenile cataracts in whom the genetic test of ABHD12 revealed a novel homozygous frameshift mutation, c.211_223del (p.Arg71Tyrfs*26). The earliest clinical manifestation in these patients was a demyelinating neuropathy manifested with a Charcot-Marie-Tooth phenotype over three decades. Progressive hearing loss, cataracts and retinitis pigmentosa appeared after the age of 30. …

AdultMaleARLID12 genecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyAtaxiagenetic structuresHearing lossUsher syndromeCharcot-Marie-Tooth diseaseCataractFrameshift mutation03 medical and health sciencesPolyneuropathies0302 clinical medicineCataractsRetinitis pigmentosaotorhinolaryngologic diseasesmedicineHumansMuscle SkeletalDeaf-blindnessbusiness.industryPHARCBrainmedicine.diseaseDermatologyMagnetic Resonance Imagingeye diseasesMonoacylglycerol LipasesPedigreePhenotypeNeurologySpainMutation030221 ophthalmology & optometryAtaxiasense organsNeurology (clinical)medicine.symptombusinessUsher syndromePolyneuropathy030217 neurology & neurosurgeryRetinitis PigmentosaRetinopathyJournal of the neurological sciences
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Dynamic accommodation without feedback does not respond to isolated blur cues

2016

Highlights • A new methodology is used to study a potential cue for dynamic accommodation. • We show that human accommodation is not driven correctly by defocus alone. • Accommodation is most efficient using changes in stimulus vergence with feedback.

AdultMaleAccommodationmedicine.medical_specialtygenetic structuresComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISIONAudiologyStimulus (physiology)Article050105 experimental psychologyPupilDynamic accommodationYoung Adult03 medical and health sciences0302 clinical medicineOpticsVergencemedicineHumans0501 psychology and cognitive sciencesMaltese crossbusiness.industry05 social sciencesHealthy subjectsAccommodation OcularBiofeedback PsychologyRefractive ErrorsSensory SystemsOphthalmologyAberrations of the eyeSpherical aberration030221 ophthalmology & optometryFemalesense organsCuesbusinessPsychologyHigher-order aberrationsAccommodationVision Research
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Changes in Accommodation and Ocular Aberration With Simultaneous Vision Multifocal Contact Lenses

2012

Objective: The aim of this study was to evaluate ocular aberration changes through different simultaneous vision multifocal contact lenses (CLs). Methods: Eighteen young-adult subjects with a mean age of 29.8 +/- 2.11 years took part. Changes in accommodative response, spherical aberration (C-4(0)), horizontal coma (C-3(1)), vertical coma (C-3(-1)), and root mean square (RMS) of higher-order aberrations (HOAs, third to sixth orders) were evaluated. Measurements were obtained with a distance-single vision CL and 2 aspheric multifocal CLs of simultaneous focus center-near design (PureVision Low Add and PureVision High Add) for 2 accommodative stimuli (-2.50 and -4.00 D). All measurements were…

AdultMaleAccommodative responseCross-Over StudiesOptical Phenomenagenetic structuresContact Lensesbusiness.industryVisual AcuityAccommodation OcularComa (optics)Mean ageRefraction Oculareye diseasesOphthalmologyOcular physiologySpherical aberrationCLs upper limitsHumansMedicineOptometryFemalebusinessAccommodationEye & Contact Lens: Science & Clinical Practice
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Influence of contrast polarity on the accommodative response☆

2018

espanolObjetivo Evaluar los cambios de la respuesta acomodativa del ojo al leer un texto en diferentes condiciones de polaridad de contraste: letras negras sobre fondo blanco (condicion BoW) y letras blancas sobre fondo negro (condicion WoB). Metodos En este estudio experimental participaron dieciocho sujetos de edades comprendidas entre 21 y 41 anos. Se obtuvo objetivamente la respuesta acomodativa (AR) del ojo al leer un texto con polaridad de contraste BoW o WoB con un sistema de optica adaptativa que corregia todas las aberraciones salvo las propias del sujeto. Se estudiaron dos tamanos de letra diferentes (condiciones de agudeza visual), mostrados en una micropantalla. Se midio la AR d…

AdultMaleAccommodative responseOriginal articleBlack-on-white textgenetic structuresmedia_common.quotation_subjectPupil diameterVisual AcuityAgudeza visualContrast Sensitivity03 medical and health sciencesYoung Adult0302 clinical medicineAccommodative responseAyudas ópticas para baja visiónContrast polarityPolaridad de contrasteContrast (vision)Humansmedia_commonPhysicsAnalysis of VariancePupil sizeAccommodation OcularLow vision aidseye diseasesTexto blanco sobre negroWhite-on-black textReading030221 ophthalmology & optometryRespuesta acomodativaFemalesense organsHumanities030217 neurology & neurosurgeryTexto negro sobre blancoPhotic StimulationOptometryJournal of Optometry
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Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene

2019

Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inherited disease, including the GNAT2 gene encoding the catalytic α-subunit of the G-protein transducin which is expressed in the cone photoreceptor outer segment. Out of a cohort of 1,116 independent families diagnosed with a primary clinical diagnosis of ACHM, we identified 23 patients with ACHM from 19 independent families with likely causative mutations in GNAT2, representing 1.7% of our large ACHM cohort. In total 22 different potentially disease-causing…

AdultMaleAchromatopsiagenetic structuresAdolescentChild preschoolDNA Copy Number VariationsColor Vision DefectsBiologymedicine.disease_causeHeterotrimeric GTP-Binding Proteins/genetics03 medical and health sciencesExonGene duplicationGeneticsmedicineHumansGenetic Predisposition to DiseaseCopy-number variationColor Vision Defects/geneticsChildGenetics (clinical)030304 developmental biologyAgedGenetics0303 health sciencesGNAT2MutationSettore MED/30 - Malattie Apparato Visivo030305 genetics & heredityBreakpointInfantSequence Analysis DNAExonsMiddle Agedmedicine.diseaseHeterotrimeric GTP-Binding ProteinsPhotoreceptor outer segmenteye diseasesPedigreeSettore BIO/18 - GeneticaSequence Analysis DNA/methodsyoung adultFemalesense organsachromatopsia copy number variations GNAT2 mutations transducinmutation
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Metastatic Anterior Chamber Non-Hodgkin Lymphoma in a Patient With Acquired Immunodeficiency Syndrome

1997

Purpose To alert ophthalmologists to the possibility of metastatic anterior chamber intraocular non-Hodgkin lymphoma in patients with acquired immunodeficiency syndrome (AIDS). Methods We examined a 19-year-old man with AIDS who had an anterior uveitis with pseudohypopyon and a history of 2 months of malaise. A specimen of the lesion was obtained with a 25-gauge needle for pathologic examination. RESULTS: Systemic exploration showed hepatomegaly. Abdominal computed tomography showed multiple lesions in the liver and spleen. Fine-needle aspiration disclosed a high-grade non-Hodgkin lymphoma. The result of a fine-needle aspiration obtained from a lesion in the anterior chamber was consistent …

AdultMaleAcquired Immunodeficiency SyndromePathologymedicine.medical_specialtyAnterior Chamberbusiness.industryEye NeoplasmsLymphoma Non-HodgkinEye diseaseBiopsy Needlemedicine.diseaseLymphomaMetastasisMalaiseLesionOphthalmologyImmunopathologymedicineHumansmedicine.symptombusinessComplicationUveitisAmerican Journal of Ophthalmology
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Proinflammatory Cytokine Profiling of Tears from Dry Eye Patients by Means of Antibody Microarrays

2011

In the pathogenesis of keratoconjunctivitis sicca, immune processes are thought to play an important role. However, the exact details of the pathomechanisms are still unknown. In this study, the expression patterns of proinflammatory cytokines in the tears of patients with different subtypes of dry eye were analyzed.One hundred forty-three subjects subdivided into healthy controls (CTRL, n = 38), patients with aqueous-deficient dry eye (DRYaq, n = 35), patients with changes of the lipid layer (DRYlip, n = 36), and patients with a combination of both (DRYaplip, n = 34) were examined. Expression patterns of proteins (e.g., IL-1β, IL-6, ITNF-α, and IFN-γ) were examined using an advanced antibo…

AdultMaleAdolescentAntibody microarraymedicine.medical_treatmentInterleukin-1betaProtein Array AnalysisDry Eye SyndromesInflammationProinflammatory cytokinePathogenesisInterferon-gammaYoung AdultmedicineHumansChildEye ProteinsAgedbiologyInterleukin-6Tumor Necrosis Factor-alphaInfantMiddle AgedCytokineChild PreschoolTearsImmunologybiology.proteinTearsDry Eye SyndromesFemaleAntibodymedicine.symptomInvestigative Opthalmology & Visual Science
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Prismatic lenses shift time perception

2009

Previous studies have demonstrated the involvement of spatial codes in the representation of time and numbers. We took advantage of a well-known spatial modulation (prismatic adaptation) to test the hypothesis that the representation of time is spatially oriented from left to right, with smaller time intervals being represented to the left of larger time intervals. Healthy subjects performed a time-reproduction task and a time-bisection task, before and after leftward and rightward prismatic adaptation. Results showed that prismatic adaptation inducing a rightward orientation of spatial attention produced an overestimation of time intervals, whereas prismatic adaptation inducing a leftward…

AdultMaleAdolescentColor visionmedia_common.quotation_subjectPoison controlAdaptation (eye)Young AdultDiscrimination PsychologicalPerceptionOrientationSPACEHumansAttentionTime processingGeneral Psychologymedia_commonPerceptual DistortionSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaOrientation (computer vision)business.industryAdaptation OcularPattern recognitionTime perceptionShift timeTIMEMemory Short-TermPattern Recognition VisualTime PerceptionFemaleArtificial intelligenceSensory DeprivationPsychologybusinessColor PerceptionPsychomotor Performance
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Strategic inhibition of distractors with visual working memory contents after involuntary attention capture

2017

AbstractPrevious research has suggested that visual working memory (VWM) contents had a guiding effect on selective attention, and once participants realized that the distractors shared the same information with VWM contents in the search task, they would strategically inhibit the potential distractors with VWM contents. However, previous behavioral studies could not reveal the way how distractors with VWM contents are inhibited strategically. By employing the eye-tracking technique and a dual-task paradigm, we manipulated the probability of memory items occurring as distractors to explore this issue. Consistent with previous behavioral studies, the results showed that the inhibitory effect…

AdultMaleAdolescentEye MovementsInvoluntary attentionhuman cognitionlcsh:MedicineArticle050105 experimental psychologyTask (project management)visual working memorysilmänliikkeetYoung Adult03 medical and health sciences0302 clinical medicineBehavioral studyHumansAttention0501 psychology and cognitive sciencesSelective attentionlcsh:ScienceInhibitory effectVisual searchAnalysis of VarianceMultidisciplinaryWorking memorylcsh:R05 social sciencestyömuistikognitiotiedeMemory Short-TermVisual Perceptionlcsh:QFemalePsychology030217 neurology & neurosurgeryeye-tracking techiquesCognitive psychologyScientific Reports
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Eyes open and eyes closed as rest conditions: impact on brain activation patterns

2003

The patterns of associated brain activations during eyes-open and eyes-closed states in complete darkness considerably differ in fMRI. An "interoceptive" state with the eyes closed is characterized by visual cortex activation, while an "exteroceptive" state with the eyes open is characterized by ocular motor system activity. The impact of the chosen rest condition (eyes open or eyes closed in complete darkness) on the pattern of brain activations during visual stimulation was evaluated in 14 healthy volunteers. During fixation or dim light room illumination, the activation of the visual cortex was larger with the eyes-open rest condition than with the eyes-closed rest condition; however, ac…

AdultMaleAdolescentEye Movementsgenetic structuresRestCognitive NeuroscienceThalamusSensory systemFixation OcularLateral geniculate nucleusSomatosensory systemReference ValuesImage Interpretation Computer-AssistedmedicineHumansVisual PathwaysDominance CerebralPrefrontal cortexVision OcularVisual CortexBrain MappingBrainGeniculate BodiesAnatomyFrontal eye fieldsImage EnhancementMagnetic Resonance Imagingeye diseasesOxygenVisual cortexmedicine.anatomical_structureNeurologyOculomotor MusclesFixation (visual)Femalesense organsSensory DeprivationArousalPsychologyNeuroscienceNeuroImage
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