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Retinitis PigmentosaDark AdaptationElectroretinographyRhodopsinCytomegalovirus RetinitisAdaptation, OcularPhotoreceptor CellsEye ProteinsRetinal Rod Photoreceptor CellsRetinaPhotoreceptor Cells, VertebrateRetinal DegenerationNight BlindnessRetinitisAdaptation, PhysiologicalPedigreeGenes, DominantRetinal Cone Photoreceptor CellsFundus OculiLightGenes, RecessiveVisual AcuityDarknessPeripherinsSensory ThresholdsGenetic Diseases, X-LinkedVisual FieldsPhycomycesVision, OcularCyclic Nucleotide Phosphodiesterases, Type 6Rod OpsinsNight VisionMutationRetinal PigmentsUsher SyndromesVisual Field TestsRetinaldehydeGenetic LinkageDNA Mutational AnalysisOpsinsBlindnessPhotic StimulationFlicker FusionConsanguinityRetinal DiseasesFovea CentralisVitamin Acis-trans-IsomerasesX ChromosomeVision DisordersVitamin A DeficiencyExonsMutation, MissenseEye Diseases, HereditaryMolecular Sequence DataChlorofluorocarbons, MethaneCathode Ray TubeFluorescein AngiographyTomography, Optical CoherenceMacular DegenerationIMP DehydrogenaseHomozygoteColor Vision DefectsElectrooculographyLaurence-Moon SyndromeCarbonic Anhydrase IVContrast SensitivityPhenotypeColor PerceptionLeber Congenital AmaurosisOcular Physiological PhenomenaPigment Epithelium of EyeRibonucleoprotein, U4-U6 Small NuclearColor Perception TestsRetinal Photoreceptor Cell Outer SegmentTetraspaninsLod ScoreAdaptation, BiologicalChromosome MappingIntermediate Filament ProteinsPolymorphism, Single-Stranded ConformationalPhotoreceptor Connecting CiliumRetinoidsAmino Acid SequenceDisease Models, AnimalFrameshift MutationBase SequenceGenes, X-LinkedMacula LuteaRetinal DysplasiaOptic Atrophy, Hereditary, LeberPhotometryHeterozygoteSequence Analysis, DNAAtaxiaPhosphenesEye Infections, ViralVision TestsTime FactorsCodon, Nonsense
AutosomalDystrophyRetinal degenerationDiabetic retinopathyMacular degenerationsCongenitalRLBP1BothniaElectroretinographyDegenerativePeripheralSevereMutationsTapetal-like reflexDiseasePatientsRetinaConeMutationFundusDiseasesOnsetChildhoodNyctalopiaSight lossClinicalSymptomsHearing lossVice versaImpairLightVisualCellularDisordersExposureGroupFunctionNightLost
Autosomal3
Dystrophy3
  • In particular, a few patients clinically found to have typical areolar macular dystrophy, retinitis pigmentosa, juvenile macular degeneration, and cone dystrophies have been reported in association with several of these mutations and reports have also associated Stargardt disease with mutations in RDS. (arizona.edu)
  • Further, while Retinitis Pigmentosa 9 is associated with loss of rods preceding loss of cones, the reverse is encountered in cone-rod dystrophy where loss of cones leads to loss of rods. (nature.com)
  • When disrupted, it gives a range of phenotypes such as early-onset severe retinal dystrophy/Leber congenital amaurosis (EOSRD/LCA), retinitis pigmentosa (RP), cone-rod dystrophy (CORD) and macular dystrophy (MD). Studies in CRB1 retinopathies have shown thickening and coarse lamination of retinal layers resembling an immature retina. (bvsalud.org)
Retinal degeneration2
Diabetic retinopathy3
Macular degenerations2
Congenital1
RLBP11
  • showed that a homozygous alteration from Arginine to Glutamine amino acid expression, at the 150 position on RLBP1, brings about the onset of retinitis punctata albescens and or fundus albipunctatus. (wikipedia.org)
Bothnia1
Electroretinography2
  • Clinical examination, kinetic Goldmann perimetry, dark adaptometry, fundus autofluorescence photography, spectral domain optical coherence tomography (SD-OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG) were performed. (molvis.org)
  • Full-field electroretinography and dark adaptometry at age 22 demonstrated reduced rod and cone function compared to at age 16. (molvis.org)
Degenerative3
  • Retinitis pigmentosa is an inherited, degenerative eye disease of the retina caused by abnormalities of the rods and cones (photoreceptors) that leads to progressive vision loss. (emory.edu)
  • At the age of fourteen, Roger Pontz was diagnosed with a degenerative condition called retinitis pigmentosa. (lydiadenworth.com)
  • The cell death in retinal degenerative diseases, such as age-related macular degeneration (AMD) or retinitis pigmentosa (RP), is often caused by the body's own immune system, which attacks retinal cells. (stria.tech)
Peripheral6
  • Retinitis pigmentosa (RP) is a group of inherited disorders characterized by progressive peripheral vision loss and night vision difficulties (nyctalopia) that can lead to central vision loss. (medscape.com)
  • The disease can manifest itself in light/dark adaptation issues, peripheral vision loss (tunnel vision) and, less often, central vision loss in advanced stages. (emory.edu)
  • Dark adaptation is prolonged but nightblindness does not usually occur and peripheral visual fields are normal. (arizona.edu)
  • Some patients have peripheral pigment clumping which may resemble the bone spicule configuration seen in retinitis pigmentosa. (arizona.edu)
  • Anna has complete loss of peripheral vision and night blindness, so she can't see in the dark. (rnib.org.uk)
  • Affected individuals may experience defective light to dark, dark to light adaptation or nyctalopia (night blindness), as the result of the degeneration of the peripheral visual field(known as tunnel vision). (eyewell.ca)
Severe1
Mutations4
  • Patients with RP2 mutations had, on average, lower visual acuity but similar visual field area, final dark-adapted threshold, and 30-Hz ERG amplitude compared with those with RPGR mutations. (nih.gov)
  • Among patients with ORF15 mutations, regression analyses showed that the final dark-adapted threshold became lower (i.e., closer to normal) and that the 30-Hz ERG amplitude increased as the length of the wild-type ORF15 amino acid sequence increased. (nih.gov)
  • The open-label, single-center Phase 2 clinical trial enrolled a total of eight retinitis pigmentosa patients with rhodopsin gene mutations, including the P23H gene mutation. (chroniclejournal.com)
  • Retinitis pigmentosa (RP) is an inherited neurodegenerative disease involving progressive vision loss, and is often linked to mutations in the rhodopsin gene. (jneurosci.org)
Tapetal-like reflex5
  • To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with prolonged dark adaptation at 22 years of age. (molvis.org)
  • Dark adaptation before fundus photography may enable the detection of a tapetal-like reflex where it is otherwise invisible. (molvis.org)
  • In this report, we describe a female carrier of XLRP where the tapetal-like reflex was clearly present after light exposure at 16 years of age, but much less so at 22 years of age when it did, however, reappear after prolonged dark adaptation and was attenuated by renewed light exposure. (molvis.org)
  • After 2 h of dark adaptation at the age of 22 years, a discreet tapetal-like reflex is present. (molvis.org)
  • After 12 h of dark adaptation at the age of 22 years, a clearly visible tapetal-like reflex is present, most conspicuously temporal of the fovea, in a pattern similar to the initial presentation at the age of 16 years. (molvis.org)
Disease6
  • Retinitis pigmentosa is a genetic eye disease that usually manifests prior to the age of 30. (visivite.com)
  • Retinitis pigmentosa is a progressive disease, although it rarely causes complete blindness. (visivite.com)
  • Willie Collins, blinded by the disease retinitis pigmentosa (RP) when he was just 37 years of age, is able to distinguish light and shadow, thanks to an artificial retina system developed by the California-based company, Second Sight . (emory.edu)
  • We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. (nih.gov)
  • I think the patient population with glaucoma for the most part has been rather passive and it is often kept in the dark about how the disease progresses and we're trying to change that. (goingblindmovie.com)
  • If our rods or rod system neurons become diseased and degenerated we become night blind as happens to unfortunate people who have a disease called retinitis pigmentosa. (org.es)
Patients6
  • This is the first treatment available for patients affected by retinitis pigmentosa," says Yan. (emory.edu)
  • Some retinitis pigmentosa patients under DMSO treatment for certain musculoskeletal disorders felt that their vision had improved while they were taking the drug. (health-matrix.net)
  • Over 50% of patients have patches of angiographically dark choroid in the posterior pole which is thought to be secondary to transmission blockage by lipofuscin accumulations in the RPE. (arizona.edu)
  • Doctors have been pleasantly surprised by the adaptations even older patients can make. (lydiadenworth.com)
  • We discussed the decisions he made in selecting the characters and settings, how this experience taught him more about adaptation to low vision, and the effect of COVID-19 on him and other glaucoma patients. (goingblindmovie.com)
  • Patients in the clinic experience difficulty transitioning from well-lit environments to dark or darkened areas. (akupunktur-noll.de)
Retina2
  • therefore, the optic nerve must cross through the retina en route to the brain. (wikipedia.org)
  • Developed by Second Sight , a California company, and approved by the FDA in 2013 only for adults with retinitis pigmentosa, the Argus II prosthesis uses a camera on a pair of glasses to send a wireless signal to the retina, where surgically-placed electrodes send the information to visual areas of the brain. (lydiadenworth.com)
Cone2
  • The refractive error, visual acuity, final dark-adapted threshold, visual field area, and 30-Hz cone electroretinogram (ERG) amplitude were measured in each patient. (nih.gov)
  • Retinitis pigmentosa (RP) is one of the most common inherited retinopathies and involves progressive loss of rod and cone photoreceptor neurons. (jneurosci.org)
Mutation1
  • ADX-2191, an investigational drug candidate, is a novel intravitreal formulation of methotrexate, which in preclinical models of retinitis pigmentosa facilitates the clearance of misfolded rhodopsin, a critical visual cycle protein susceptible to genetic mutation. (chroniclejournal.com)
Fundus2
Diseases2
Onset1
  • This gradual low-light vision onset, known as dark adaptation, is familiar to anyone who has moved from bright daylight to a darkened room. (visivite.com)
Childhood1
  • Difficulty with dark adaptation can occur in childhood, and although it may be noticed it is seldom attributed to RP, but rather clumsiness, stupidity or even lack of carrots! (deafblind.co.uk)
Nyctalopia1
Sight loss1
Clinical2
  • This modification prevents acceleration of the photoreceptor degeneration that occurs with exposure to modest light levels as used in routine clinical practice.8 If humans with retinitis pigmentosa are shown to have similar light damage susceptibility, this microscope modification could be considered for surgical procedures such as the subretinal application of gene therapy vectors. (upenn.edu)
  • Multiple regulatory and clinical catalysts are planned for the coming quarters, including PDUFA dates for ADX-2191 and reproxalap, top-line results from our Phase 2 clinical trials in retinitis pigmentosa and chronic cough, and top-line results from our Phase 3 INVIGORATE-2 trial in allergic conjunctivitis. (chroniclejournal.com)
Symptoms1
Hearing loss1
Vice versa2
  • She also finds it very difficult to transition from light to dark and vice versa. (rnib.org.uk)
  • Then he had to locate white plates on dark tablecloths and vice versa. (lydiadenworth.com)
Impair2
Light3
  • The changes in the standing potential across the eyeball were recorded by skin electrodes during simple eye movements and after exposure to periods of light and dark. (org.es)
  • Allow time to adjust between light and dark environments. (who.int)
  • he slow adaptation to darkness could mean that those affected need a particularly long time to adapt to changing light conditions, while the deterioration in night vision indicates a general impairment of vision in low light. (akupunktur-noll.de)
Visual1
  • These all have similar qualities such as, photoreceptor deterioration and slower dark adaptation, ultimately leading to visual impairment, often leading to complete blindness. (wikipedia.org)
Cellular1
  • En face OCT reflectance images which accompany OCTA studies offer a glimpse of the macrophage-like cellular activity above the retinal surface which responds to systemically instigated vascular events below. (stanford.edu)
Disorders1
Exposure1
Group1
  • 2) Although the possible effectiveness of DMSO on both of these groups deserves further study, the author has found it possible to undertake an extensive, in-depth study on only one group at this time, the retinitis pigmentosa group. (health-matrix.net)
Function1
  • In addition, tracking changes in dark adaptation function with the AdaptDx can help the doctor recommend treatment with proven late-stage AMD drugs at the earliest possible time when outcomes are best. (doctormmdev.com)
Night1
Lost1