Boletín informativo mayo 2014

Retina Noticias

CONTENIDOS

Artículos Científicos

Noticias

Agenda (jornadas, congresos, seminarios, conferencias, cursos)

Ayudas a la investigación

ARTÍCULOS CIENTÍFICOS

• Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
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• Detection of Retinitis Pigmentosa by Differential Interference Contrast Microscopy
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• MicroRNA-410 Reduces the Expression of Vascular Endothelial Growth Factor and Inhibits Oxygen-Induced Retinal Neovascularization
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• Adenosine A2A Receptor Up-Regulates Retinal Wave Frequency via Starburst Amacrine Cells in the Developing Rat Retina
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• Non-Invasive Detection of Early Retinal Neuronal Degeneration by Ultrahigh Resolution Optical Coherence Tomography
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• Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing
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• Proliferación potencial de las células de Müller después de daño en la retina varía entre cepas Ratón
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• RNA Interference-Based Therapy for Spinocerebellar Ataxia Type 7 Retinal Degeneration
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• Wnt Signaling in Form Deprivation Myopia of the Mice Retina
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• E50K-OPTN-Induced Retinal Cell Death Involves the Rab GTPase-Activating Protein, TBC1D17 Mediated Block in Autophagy
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• Differential Angiogenic Properties of Lithium Chloride In Vitro and In Vivo
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• Proliferation Potential of Müller Glia after Retinal Damage Varies between Mouse Strains
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• A Comprehensive Texture Segmentation Framework for Segmentation of Capillary Non-Perfusion Regions in Fundus Fluorescein Angiograms
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• A Comparison of Spatial Analysis Methods for the Construction of Topographic Maps of Retinal Cell Density
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• VIH-1 Tat mediada por apoptosis en células hemato-retiniana Humanos barreras asociadas
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• Changes in the Daily Rhythm of Lipid Metabolism in the Diabetic Retina
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• Pou4f1 and Pou4f2 Are Dispensable for the Long-Term Survival of Adult Retinal Ganglion Cells in Mice
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• Analysis of Rare Variants in the C3 Gene in Patients with Age-Related Macular Degeneration
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• MAutomated Quantification Reveals Hyperglycemia Inhibits Endothelial Angiogenic Function
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• EIAV-Based Retinal Gene Therapy in the shaker1 Mouse Model for Usher Syndrome Type 1B: Development of UshStat
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• An Intronic SINE Insertion in FAM161A that Causes Exon-Skipping Is Associated with Progressive Retinal Atrophy in Tibetan Spaniels and Tibetan Terriers
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• Synthesis and Propagation of Complement C3 by Microglia/Monocytes in the Aging Retina
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• ISpink2 Modulates Apoptotic Susceptibility and Is a Candidate Gene in the Rgcs1 QTL That Affects Retinal Ganglion Cell Death after Optic Nerve Damage
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• Rax-CreERT2 Knock-In Mice: A Tool for Selective and Conditional Gene Deletion in Progenitor Cells and Radial Glia of the Retina and Hypothalamus
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• Intravitreal Injection of IGFBP-3 Restores Normal Insulin Signaling in Diabetic Rat Retina
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• α-Melanocyte-Stimulating Hormone Protects Retinal Vascular Endothelial Cells from Oxidative Stress and Apoptosis in a Rat Model of Diabetes
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• gdf6a Is Required for Cone Photoreceptor Subtype Differentiation and for the Actions of tbx2b in Determining Rod Versus Cone Photoreceptor Fate
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• RNA Sequence Reveals Mouse Retinal Transcriptome Changes Early after Axonal Injury
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• Melanopsin Ganglion Cells Are the Most Resistant Retinal Ganglion Cell Type to Axonal Injury in the Rat Retina
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• Natural History of Cone Disease in the Murine Model of Leber Congenital Amaurosis Due to CEP290 Mutation: Determining the Timing and Expectation of Therapy
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• Melanopsin Ganglion Cells Are the Most Resistant Retinal Ganglion Cell Type to Axonal Injury in the Rat Retina
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• Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa
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• Integrated Analysis of DNA Methylation and RNA Transcriptome during In Vitro Differentiation of Human Pluripotent Stem Cells into Retinal Pigment Epithelial Cells
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• Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
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• Quantitative Analysis of Cone Photoreceptor Distribution and Its Relationship with Axial Length, Age, and Early Age-Related Macular Degeneration
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• Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1
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• Dre – Cre Sequential Recombination Provides New Tools for Retinal Ganglion Cell Labeling and Manipulation in Mice
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• Down-Regulation of the RNA Editing Enzyme ADAR2 Contributes to RGC Death in a Mouse Model of Glaucoma
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• Elevated High-Density Lipoprotein Cholesterol and Age-Related Macular Degeneration: The Alienor Study
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• Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing
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• Canine Retina Has a Primate Fovea-Like Bouquet of Cone Photoreceptors Which Is Affected by Inherited Macular Degenerations
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• Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)
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• Loss of Photoreceptors Results in Upregulation of Synaptic Proteins in Bipolar Cells and Amacrine Cells
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• γ-Synuclein Antibodies Have Neuroprotective Potential on Neuroretinal Cells via Proteins of the Mitochondrial Apoptosis Pathway
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• Anatomical Attributes of the Optic Nerve Head in Eyes with Parafoveal Scotoma in Normal Tension Glaucoma
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• Peripapillary Retinoschisis in Glaucomatous Eyes
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• Interferon-Gamma (IFN-γ)-Mediated Retinal Ganglion Cell Death in Human Tyrosinase T Cell Receptor Transgenic Mouse
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• Adaptive Optics-Assisted Identification of Preferential Erythrocyte Aggregate Pathways in the Human Retinal Microvasculature
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• RAGE Regulates Immune Cell Infiltration and Angiogenesis in Choroidal Neovascularization
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• Temsirolimus Inhibits Proliferation and Migration in Retinal Pigment Epithelial and Endothelial Cells via mTOR Inhibition and Decreases VEGF and PDGF Expression
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• Single-Cell Resolution Imaging of Retinal Ganglion Cell Apoptosis In Vivo Using a Cell-Penetrating Caspase-Activatable Peptide Probe
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• Degeneration Modulates Retinal Response to Transient Exogenous Oxidative Injury
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• The Relationship between BCMO1 Gene Variants and Macular Pigment Optical Density in Persons with and without Age-Related Macular Degeneration
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• T Cells and Macrophages Responding to Oxidative Damage Cooperate in Pathogenesis of a Mouse Model of Age-Related Macular Degeneration
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• Fucoidan Reduces Secretion and Expression of Vascular Endothelial Growth Factor in the Retinal Pigment Epithelium and Reduces Angiogenesis In Vitro
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• Otx2 ChIP-seq Reveals Unique and Redundant Functions in the Mature Mouse Retina
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• A pY RNA1-s2: A Highly Retina-Enriched Small RNA That Selectively Binds to Matrin 3 (Matr3)
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• Snoring and Glaucoma
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• Assessment of the Optic Nerve Head Parameters Using Heidelberg Retinal Tomography III in Preterm Children
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• Automated Method for Identification and Artery-Venous Classification of Vessel Trees in Retinal Vessel Networks
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• Ablation of the Proapoptotic Genes Chop or Ask1 Does Not Prevent or Delay Loss of Visual Function in a P23H Transgenic Mouse Model of Retinitis Pigmentosa
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• Combined Genetic and High-Throughput Strategies for Molecular Diagnosis of Inherited Retinal Dystrophies
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• Visual Space and Object Space in the Cerebral Cortex of Retinal Disease Patients
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• Bar Represses dPax2 and Decapentaplegic to Regulate Cell Fate and Morphogenetic Cell Death in Drosophila Eye
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• Repeatability and Reproducibility of Eight Macular Intra-Retinal Layer Thicknesses Determined by an Automated Segmentation Algorithm Using Two SD-OCT Instruments
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• Evaluation of Cystoid Change Phenotypes in Ocular Toxoplasmosis Using Optical Coherence Tomography
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• CERKL, a Retinal Disease Gene, Encodes an mRNA-Binding Protein That Localizes in Compact and Untranslated mRNPs Associated with Microtubules
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• Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease
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• Cellular Mechanisms of High Mobility Group 1 (HMGB-1) Protein Action in the Diabetic Retinopathy
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• Efficient Photodynamic Therapy on Human Retinoblastoma Cell Lines
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• IKK2 Inhibition Attenuates Laser-Induced Choroidal Neovascularization
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• Network Oscillations Drive Correlated Spiking of ON and OFF Ganglion Cells in the rd1 Mouse Model of Retinal Degeneration
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• PGlaucoma-Induced Optic Disc Morphometric Changes and Glaucoma Diagnostic Ability of Heidelberg Retina Tomograph II in Highly Myopic Eyes
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• Hypoxia Inducible Factor-2α Regulates the Development of Retinal Astrocytic Network by Maintaining Adequate Supply of Astrocyte Progenitors
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• Loss of CD34 Expression in Aging Human Choriocapillaris Endothelial Cells
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• Immuno-Histochemical Analysis of Rod and Cone Reaction to RPE65 Deficiency in the Inferior and Superior Canine Retina
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• fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis
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• Inhibition of Oxygen-Induced Ischemic Retinal Neovascularization with Adenoviral 15-Lipoxygenase-1 Gene Transfer via Up-Regulation of PPAR-γ and Down-Regulation of VEGFR-2 Expression
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• Patterning the Cone Mosaic Array in Zebrafish Retina Requires Specification of Ultraviolet-Sensitive Cones
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• Detecting Changes in Retinal Function: Analysis with Non-Stationary Weibull Error Regression and Spatial Enhancement (ANSWERS)
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• Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
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• Tumorigenicity Studies of Induced Pluripotent Stem Cell (iPSC)-Derived Retinal Pigment Epithelium (RPE) for the Treatment of Age-Related Macular Degeneration
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• Regenerative Therapeutic Potential of Adipose Stromal Cells in Early Stage Diabetic Retinopathy
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• Sirtuin1 Over-Expression Does Not Impact Retinal Vascular and Neuronal Degeneration in a Mouse Model of Oxygen-Induced Retinopathy
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• Differential Calcium Signaling Mediated by Voltage-Gated Calcium Channels in Rat Retinal Ganglion Cells and Their Unmyelinated Axons
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• TRIP8b Is Required for Maximal Expression of HCN1 in the Mouse Retina
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• Gas6 Stimulates Angiogenesis of Human Retinal Endothelial Cells and of Zebrafish Embryos via ERK1/2 Signaling
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• Activation of the Nrf2/HO-1 Antioxidant Pathway Contributes to the Protective Effects of Lycium Barbarum Polysaccharides in the Rodent Retina after Ischemia-Reperfusion-Induced Damage
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• Systemic Simvastatin Rescues Retinal Ganglion Cells from Optic Nerve Injury Possibly through Suppression of Astroglial NF-κB Activation
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• Birth of Cone Bipolar Cells, but Not Rod Bipolar Cells, Is Associated with Existing RGCs
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• PREVALENCE AND SPATIAL DISTRIBUTION OF CYSTOID SPACES IN RETINITIS PIGMENTOSA: Investigation With Spectral Domain Optical Coherence Tomography
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• Diagnostic and Therapeutic Challenges
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• AUTOIMMUNE RETINOPATHY AND ANTIRETINAL ANTIBODIES: A REVIEW
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• RETINA MEASUREMENTS FOR DIAGNOSIS OF PARKINSON DISEASE
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• ASSOCIATION OF DARK-ADAPTED VISUAL FUNCTION WITH RETINAL STRUCTURAL CHANGES IN PATIENTS WITH STARGARDT DISEASE
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• MACULAR TELANGIECTASIA–CHANGES IN MACULAR PIGMENT OPTICAL DENSITY DURING A 5-YEAR FOLLOW-UP
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• Psychophysical Measurement of Rod and Cone Thresholds in Stargardt Disease With Full-Field Stimuli
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• Fluorescein Angiography Versus Optical Coherence Tomography-Guided Planning for Macular Laser Photocoagulation in Diabetic Macular Edema
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• Multilayered Pigment Epithelial Detachment in Neovascular Age-Related Macular Degeneration
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• Iatrogenic Retinal Breaks in 25-Gauge Vitrectomy Under Air Compared With the Standard 25-Gauge System for Macular Diseases
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• Structural and Functional Retinal Changes in Eyes With Dusn
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• Intravitreal Ranibizumab for Retinal Vein Occlusion Through 1 Year in Clinical Practice
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• ANTI-VEGF TREATMENT IN NEOVASCULAR AGE-RELATED MACULAR DEGENERATION: A Treat-and-Extend Protocol Over 2 Years
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• Relief of Macular Traction After Laser Puncture for an Intraretinal Hemorrhagic Pseudocyst
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• Variable Photoreceptor Inner and Outer Segment Junction Appearance in Central Serous Chorioretinopathy
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• PREVALENCIA DE GLAUCOMA DE ANGULO ABIERTO EN vitrectomizados OJOS: un estudio transversal
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• Characteristics of Rhegmatogenous Retinal Detachment and Their Relationship to Success Rates of Surgery
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• Decreased Macular Thickness in Nonproliferative Macular Telangiectasia Type 2 With Oral Carbonic Anhydrase Inhibitors
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• Exacerbation of Choroidal and Retinal Pigment Epithelial Atrophy After Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-Related Macular Degeneration
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• Subfoveal Choroidal Thickness in Retinal Angiomatous Proliferation
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• Automated Image Alignment and Segmentation to Follow Progression of Geographic Atrophy in Age-Related Macular Degeneration
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• Charles Bonnet syndrome: characteristics of its visual hallucinations and differential diagnosis.
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• Applying theories and interventions from behavioral medicine to understand and reduce visual field variability in patients with vision loss.
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• The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa.
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• Occult macular dystrophy with bilateral chronic subfoveal serous retinal detachment associated with a novel RP1L1 mutation (p.S1199P).
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• RETINAL MICROGLIA ARE ACTIVATED BY SYSTEMIC FUNGAL INFECTION.
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• Disruption of the Retinitis Pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
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• Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2
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• Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase.
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• ACTIVATION OF BAX IN THREE MODELS OF RETINITIS PIGMENTOSA.
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• High Resolution MALDI Imaging Mass Spectrometry of Retinal Tissue Lipids.
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• Detection of retinitis pigmentosa by differential interference contrast microscopy.
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• Four-Year Placebo-Controlled Trial of Docosahexaenoic Acid in X-Linked Retinitis Pigmentosa (DHAX Trial): A Randomized Clinical Trial
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• Perspectives of drug-based neuroprotection targeting mitochondria.
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• Detecting genetic variations in hereditary retinal dystrophies with next-generation sequencing technology.
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• A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.
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• RNA interference gene therapy in dominant retinitis pigmentosa and cone-rod dystrophy mouse models caused by GCAP1 mutations.
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• A pilot study of an acupuncture protocol to improve visual function in retinitis pigmentosa patients
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• Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations
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• Progress of mesenchymal stem cell therapy for neural and retinal diseases.
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• Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.
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• Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa.
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• Structural and Functional Retinal Changes in Eyes With Dusn
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• Modulation of cellular signaling pathways in P23H rhodopsin photoreceptors.
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• PREVALENCE AND SPATIAL DISTRIBUTION OF CYSTOID SPACES IN RETINITIS PIGMENTOSA: Investigation With Spectral Domain Optical Coherence Tomography.
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• The CRB1 and adherens junction complex proteins in retinal development and maintenance.
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• Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia.
  Free PMC Article

• Retinitis Pigmentosa, Cutis Laxa and Pseudoxanthoma Elasticum-Like Skin Manifestations Associated with GGCX Mutations.
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• Hsp90 inhibition protects against inherited retinal degeneration.
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• A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.
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• Early alteration of retinal neurons in Aipl1-/- animals.
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• ET-1 plasma levels, choroidal thickness and multifocal electroretinogram in retinitis pigmentosa
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• N -methyl- N -nitrosourea-induced retinal degeneration in mice.
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• Coat’s-like exudation in rhodopsin retinitis pigmentosa: successful treatment with an intravitreal dexamethasone implant.
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• Approaches to cell delivery: substrates and scaffolds for cell therapy.
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• P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis.
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• Retinal repair with induced pluripotent stem cells.
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• Inherent instability of the retinitis pigmentosa P23H mutant opsin.
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• Juvenile-onset macular degeneration and allied disorders.
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• General pathophysiology in retinal degeneration.
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• The cost-effectiveness of the Argus II retinal prosthesis in Retinitis Pigmentosa patients.
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• Population genetics of Cryptosporidium meleagridis in humans and birds: evidence for cross-species transmission.
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• Taurine: The comeback of a neutraceutical in the prevention of retinal degenerations.
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• Salvaging ruins: reverting blind retinas into functional visual sensors.
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• Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
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• Retinal prosthesis.
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• Retinal prostheses: Clinical results and future challenges.
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• Therapeutic strategy for handling inherited retinal degenerations in a gene-independent manner using rod-derived cone viability factors.
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• The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models.
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• Gene discovery and prevalence in inherited retinal dystrophies.
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• myosin 7aa-/- mutant zebrafish show mild photoreceptor degeneration and reduced electroretinographic responses.
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• Sectorial loss of retinal ganglion cells in inherited photoreceptor degeneration is due to RGC death.
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• Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: From Syndromic to Nonsyndromic Retinal Degeneration.
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• Classroom demonstration of the visual effects of eye diseases.
  Free PMC Article

• Protective effects of bilberry and lingonberry extracts against blue light-emitting diode light-induced retinal photoreceptor cell damage in vitro.
  Free PMC Article

• Optical Coherence Tomography-Guided Retinal Prosthesis Design: Model of Degenerated Retinal Curvature and Thickness for Patient-Specific Devices.
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• Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.
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• Whole-Exome Sequencing Identifies KIZ as a Ciliary Gene Associated with Autosomal-Recessive Rod-Cone Dystrophy.
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• SLC7A14 linked to autosomal recessive retinitis pigmentosa.
  Free PMC Article

• Antioxidant therapy for retinal disease.
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• Therapy Strategies for Usher Syndrome Type 1C in the Retina.
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• Gene Therapy Restores Vision and Delays Degeneration in the CNGB1(-/-) Mouse Model of Retinitis Pigmentosa.
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• Gene Therapy for Stargardt Disease Associated with ABCA4 Gene.
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• Gene therapy in the rd6 mouse model of retinal degeneration.
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• The Effects of IRE1, ATF6, and PERK Signaling on adRP-Linked Rhodopsins.
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• Endoplasmic reticulum stress in vertebrate mutant rhodopsin models of retinal degeneration.
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• Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish.
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• Interaction of Tubby-Like Protein-1 (Tulp1) and Microtubule-Associated Protein (MAP) 1A and MAP1B in the Mouse Retina.
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• Pathogenesis of X-linked RP3: Insights from Animal Models.
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• Current Therapeutic Strategies for P23H RHO-Linked RP.
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• Microglia-Müller Glia Crosstalk in the rd10 Mouse Model of Retinitis Pigmentosa.
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• FAM161A, a Novel Centrosomal-Ciliary Protein Implicated in Autosomal Recessive Retinitis Pigmentosa.
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• Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa
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• Digital Quantification of Goldmann Visual Fields (GVFs) as a Means for Genotype-Phenotype Comparisons and Detection of Progression in Retinal Degenerations.
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• Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
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• Animal Models, in «The Quest to Decipher RPE Phagocytosis».
  ABstract

• Acne vulgaris in the context of complex medical co-morbities: the management of severe acne vulgaris in a female with retinitis pigmentosa – utilizing pulse dye laser in conjunction with medical therapy.
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• Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
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• Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.
  Free PMC Article

• Stem cells for investigation and treatment of inherited retinal disease.
  Free PMC Article

• Novel regulatory principles of the spliceosomal Brr2 RNA helicase and links to retinal disease in humans.
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• CCL3 Production by Microglial Cells Modulates Disease Severity in Murine Models of Retinal Degeneration.
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• Adenosine triphosphate-induced photoreceptor death and retinal remodeling in rats.
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• [A new form of hereditary neurodegeneration with brain iron accumulation: clinical and molecular-genetic characteristics].
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• Autosomal Recessive Posterior Column Ataxia with Retinitis Pigmentosa Caused by Novel Mutations in the FLVCR1 gene.
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• A magic bullet to specifically eliminate mutated mitochondrial genomes from patients’ cells.
  Free PMC Article

• Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
  Free PMC Article

• Cone photoreceptors develop normally in the absence of functional rod photoreceptors in a transgenic Swine model of retinitis pigmentosa.
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• Whole exome sequencing in thai patients with retinitis pigmentosa reveals novel mutations in six genes.
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• A Pro23His Mutation Alters Prenatal Rod Photoreceptor Morphology in a Transgenic Swine Model of Retinitis Pigmentosa.
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• Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations.
  Free PMC Article

• Inhibition of dopamine signaling suppresses cGMP accumulation in rd1 retinal organ cultures.
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• The effect of the common c.2299delG mutation in USH2A on RNA splicing.
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• Oxygen-induced retinopathy in mice with retinal photoreceptor cell degeneration.
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• Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion in PRPF31.
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• Cyr61 activates retinal cells and prolongs photoreceptor survival in rd1 mouse model of retinitis pigmentosa.
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• Intraretinal hyperreflective foci on spectral-domain optical coherence tomographic images of patients with retinitis pigmentosa.
  Free PMC Article

• Homozygous c.1937+1G>A splice-site variant of the ABCA4 gene is associated with Stargardt disease.
  ABstract

• Spontaneous Hemothorax in a Patient With von Recklinghausen’s Disease.
  Free PMC Article

• Developing cellular therapies for retinal degenerative diseases.
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• Retinitis pigmentosa‑associated rhodopsin mutant T17M induces endoplasmic reticulum (ER) stress and sensitizes cells to ER stress-induced cell death.
  Abstract

• Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations.
  Free PMC Article

• CRB2 acts as a modifying factor of CRB1-related retinal dystrophies in mice.
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• Functional expression of electron transport chain complexes in mouse rod outer segments.
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• The Argus II Retinal Prosthesis: Twelve-Month Outcomes from a Single-Study Center.
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• Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
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• Exome-based mapping and variant prioritization for inherited Mendelian disorders.
  Abstract

• Restoring visual function to blind mice with a photoswitch that exploits electrophysiological remodeling of retinal ganglion cells.
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• Clinical and Electrophysiologic Characteristics of a Large Kindred with X-linked Retinitis Pigmentosa Associated with the RPGR Locus.
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• Proteomic survey reveals altered energetic patterns and metabolic failure prior to retinal degeneration.
  Abstract

• Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
  Abstract

• Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
  Abstract

• Combined occurrence of Alström syndrome and bronchiectasis.
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• Macular abnormalities in Italian patients with retinitis pigmentosa.
  Free full text

• Low-level laser therapy improves vision in a patient with retinitis pigmentosa.
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• A review and update on the current status of retinal prostheses (bionic eye).
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• Ablation of the proapoptotic genes chop or Ask1 does not prevent or delay loss of visual function in a P23H transgenic mouse model of retinitis pigmentosa.
  Free PMC Article

• Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
  Free PMC Article

• Cytochrome P450 2C epoxygenases mediate photochemical stress-induced death of photoreceptors.
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• The effect of photoreceptor degeneration on ganglion cell morphology.
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• Mechanistically distinct mouse models for CRX-associated retinopathy.
  Free PMC Article

• Unilateral retinitis pigmentosa: 30 years follow-up
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• The effect of an intravitreal dexamethasone implant for cystoid macular edema in retinitis pigmentosa: a case report and literature review.
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• Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
  Abstract

• Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.
  Abstract

• Development of very large electrode arrays for epiretinal stimulation (VLARS).
  Free PMC Article

• CERKL, a retinal disease gene, encodes an mRNA-binding protein that localizes in compact and untranslated mRNPs associated with microtubules.
  Free PMC Article

• Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease.
  Free PMC Article

• Neuroprotective effects of the cannabinoid agonist HU210 on retinal degeneration.
  Abstract

• Targeted ablation of Crb2 in photoreceptor cells induces retinitis pigmentosa.
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• Retinitis pigmentosa sine pigmenti. Debut with macular oedema.
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• Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
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• Association between genotype and phenotype in families with mutations in the ABCA4 gene.
  Free PMC Article

• Association between genotype and phenotype in families with mutations in the ABCA4 gene.
  Free PMC Article

• Tomographic comparison of cone-rod and rod-cone retinal dystrophies.
  Abstract

• Chlorogenic acid supplementation improves multifocal electroretinography in patients with retinitis pigmentosa.
  Free PMC Article

• Early-onset X-linked Retinitis Pigmentosa in a Heterozygous Female Harboring an Intronic Donor Splice Site Mutation in the Retinitis Pigmentosa GTPase Regulator Gene.
  Abstract

• PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
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• Trophic factors in the pathogenesis and therapy for retinal degenerative diseases.
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• Prenylation defects in inherited retinal diseases.
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• Prenylation defects in inherited retinal diseases.
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• Advances in gene therapy technologies to treat retinitis pigmentosa.
  Free PMC Article

• Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
  Abstract

• Cone dystrophy with «supernormal» rod ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function.
  Abstract

• Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.
  Abstract

• Survival and migration of pre-induced adult human peripheral blood mononuclear cells in retinal degeneration slow (rds) mice three months after subretinal transplantation.
  Abstract

• Antioxidants and vision health: facts and fiction.
  Abstract

• Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.
  Abstract

• Alpha-crystallin-mediated protection of lens cells against heat and oxidative stress-induced cell death.
  Abstract

• Optimal control in the treatment of retinitis pigmentosa.
  Abstract

• Usher protein functions in hair cells and photoreceptors.
  Abstract

• Transplantation of human bone marrow mesenchymal stem cells as a thin subretinal layer ameliorates retinal degeneration in a rat model of retinal dystrophy.
  Abstract

• Tyrosine capsid-mutant AAV vectors for gene delivery to the canine retina from a subretinal or intravitreal approach.
  Abstract

• Exclusion of influences of ARMS2 polymorphisms on the central visual field in retinitis pigmentosa.
  Abstract

• Photoreceptors in whirler mice show defective transducin translocation and are susceptible to short-term light/dark changes-induced degeneration.
  Abstract

• Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.
  Abstract

• Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
  Abstract

• Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
  Abstract

• Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of «linked trans-acting epistasis».
  Abstract

• Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa.
  Abstract

• Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.
  Abstract

• Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
  Abstract

• Second Sight, Kellogg Eye Center finding early success with artificial retina
  Abstract

• A look to the future of subretinal implant
  Abstract

• Retinal inflammation: Novel drug delivery
  Abstract

• GRF update: Adaptive optics and glaucoma biomarkers
  Abstract

NOTICIAS

• El papel de los genes en la respuesta a un nuevo fármaco contra la DMAE
  Noticia completa

• Creación de un cromosoma sintético en una célula de levadura
  Noticia completa

• Movilizarse para buscar recursos para la investigación
  Noticia completa

• Un grupo de investigadores ha sido galardonado con el Premio Alcon a la Excelencia Investigadora en Glaucoma
  Noticia completa

• Premian un proyecto valenciano para prevenir el glaucoma
  Noticia completa

• Estudio: nuevas técnicas de trasplante de córneas aumentan el rechazo de los tejidos
  Noticia completa

• Nuevo software que permite a los invidentes ‘ver’ con sonidos
  Noticia completa

• Los perros también tiene fovea en sus retinas
  Noticia completa

• “Implantan en España una córnea artificial en un paciente con una patología grave”
  Noticia completa

• Primeros monos transgénicos ‘a medida’
  Noticia completa

• Despejar la X del cromosoma
  Noticia completa

• Revolución en el campo de la medicina regenerativa
  Noticia completa

• Células madre para regenerar la retina
  
  Noticia completa

• Diseñan un sistema de sonidos para facilitar la autonomía de personas con discapacidad
  Noticia completa

• Terapia génica para recuperar la visión
  Noticia completa

• Se acuerdan nuevas normas desde la UE para favorecer los ensayos clínicos multinacionales sobre enfermedades graves
  Noticia completa

• Lentes para presbicia y cataratas y modelos matemáticos
  Noticia completa

AGENDA

• VI JORNADAS OFTALMOLOGÍA PEDIÁTRICA

Fecha: 30 de mayo de 2014

Dónde: Zaragoza

Web: proyectosypersonas.es

• XXIV CONGRESO SECPOO 2014

Fecha: 4, 5 y 6 de Junio de 2014.

Dónde: Granada

Web: www.oftalmo.com

• COS ANNUAL MEETING

Fecha: del 4 al 7 de junio de 2014

Dónde: Halifax, Nova Scotia

Web: www.cos-sco.ca

• VI JORNADAS CIENTÍFICO-TÉCNICAS ASPREH: “Profesionales de la Rehabilitación y Personas con Discapacidad Visual: abriendo caminos de Autonomía y Desarrollo”

Fecha: del 6 al 8 de junio de 2014

Dónde: Madrid

Web: //aspreh.org

• 11TH EGS (EUROPEAN GLAUCOMA SOCIETY) CONGRESS

Fecha: del 7 al 11 de junio de 2014

Dónde: Nice, Francia

Web: www.oic.it

• PAN-AMERICAN RETINA AND VITREOUS SOCIETY

Fecha: del 11 al 14 de junio de 2014

Dónde: SAN JUAN, PUERTO RICO

Web: www.sprv2014.org/

• XXXII CONGRESO MEXICANO DE OFTALMOLOGÍA

Fecha: del 14 al 18 de junio de 2014

Dónde: Cancún, Qintana Roo, México

Web: www.smo.org.mx/smo/

• 2014 SPRING SCIENTIFIC SYMPOSIUM

Fecha: del 19 al 22 de junio 2014

Dónde: Montage Deer Valley. 9100 Marsac Avenida Park City, UT 84060

Web: www.asoprs.org

• 11TH INTERNATIONAL SYMPOSIUM ON OCULAR PHARMACOLOGY AND THERAPEUTICS

Fecha: del 19 al 22 de junio de 2014

Dónde: Reykjavik, Iceland

Web: isopt.net//

• XLII CONGRESO DE LA SOCIEDAD CANARIA DE OFTALMOLOGÍA

Fecha: del 20 al 21 de junio de 2014

Dónde: Maspalomas

Web: www.oftalmo.com/

• 18 th Retina International World Conference

Fecha: del 26 al 29 de junio de 2014

Dónde: Paris

Web: www.retina2014.com

• AECOS European Summer Symposium

Fecha: del 27 al 28 de junio de 2014

Dónde: Barcelona

Web: www.aecosurgery.org

• 50 ANIVERSARIO DE SOCIETAS INTERNATIONALIS PRO DIAGNOSTICA ULTRASONICA IN OPHTHALMOLOGIA (SIDUO)

Fecha: del 2 al 5 de julio de 2014

Dónde: Berlín

Web: www.siduo2014.de

• THE OPHTHALMOLOGICAL SOCIETY OF THE WEST INDIES (OSWI): 25TH ANNUAL CONGRESS

Fecha: del 8 al 12 de julio de 2014

Dónde: Montego Bay, Jamaica

Web: oswinet.org

• 2014 ISER BIENNIAL MEETING (INTERNATIONAL SOCIETY FOR EYE RESEARCH)

Fecha: del 20 al 24 de julio de 2014

Dónde: San Francisco, California, USA

Mail: avpm@oftalmo.com

• XVIII CONGRESSO INTERNACIONAL SBO SOCIEDADE BRASILEIRA DE OFTALMOLOGIA

Fecha: del 23 al 26 de julio de 2014

Dónde: Rio de Janeiro

Web: www.sboportal.org.br/default.aspx

• XXXVI CONGRESO NACIONAL E INTERNACIONAL DE OFTALMOLOGÍA “INNOVACIÓN EN OFTALMOLOGÍA

Fecha: del 5 al 9 de agosto de 2014

Dónde: Medellin

Web: congresooftalmologia2014.socoftal.com

• XXV CONGRESO PERUANO DE OFTALMOLOGÍA 2014

Fecha: del 28 al 30 de agosto de 2014

Dónde: Lima

Web: www.spo.org.pe

• 14TH EVRS MEETING

Fecha: del 4 al 7 de septiembre de 2014

Dónde: Oporto. Portugal

Web: www.evrs.eu

• XXI CONGRESSO BRASILEÑO DE PREVENCIÓN DE LA CEGUERA Y REHABILITACIÓN VISUAL

Fecha: del 3 al 6 de septiembre de 2014

Dónde: Centro de Convenciones de Pernambuco

Web: www.congressocbo.com.br

• X PARAGUAY CONGRESS OF OPHTHALMOLOGY & VIII INTERNATIONAL CONGRESS OF OPHTHALMOLOGY

Fecha: del 5 al 7 de septiembre de 2014

Dónde: Asunción. Paraguay

Web: www.spo.org.py/

• 14th EURETINA Congress

Fecha: del 11 al 14 de septiembre de 2014

Dónde: Londres

Web: www.euretina.org

• XXXII CONGRESS OF THE EUROPEAN SOCIETY OF CATARACT & REFRACTIVE SURGEONS(ESCRS)

Fecha: del 13 al 17 de septiembre de 2014

Dónde: Londres

Web: www.escrs.org

• 2ND. EUROPEAN CONFERENCE ON ANIRIDIA

Fecha: del 19 al 20 de septiembre de 2014

Dónde: Venecia

Web: //2014.aniridiaconference.org/

• APGC-ISOHK-2014 2nd. Asia-Pacific Glaucoma Congress

Fecha: del 26 al 28 de septiembre de 2014

Dónde: Hong Kong

Web: www.apgc-isohk-2014.org

• DOG 2014 (Deutsche Ophthalmologische Geselischaft)

Fecha: del 25 al 28 de septiembre de 2014

Dónde: Leipzig

Web: dog2014.dog-kongress.de

• EVER (European Association for Vision and Eye Research)

Fecha: del 1 al 4 de octubre de 2014

Dónde: Nice, Francia

Web: www.ever.be

• 90 CONGRESO DE LA SOCIEDAD ESPAÑOLA DE OFTALMOLOGÍA

Fecha: del 1 al 4 de octubre de 2014

Dónde: Bilbao

Web: www.oftalmoseo.com

• ALACCSA-R Congress

Fecha: del 2 al 4 de octubre de 2014

Dónde: Buenos Aires

Web: www.alaccsa.com

• CONGRESO PANAMERICANO DE ÖRBITA Y OCULOPLÁSTICA(Pan-American Oculoplastics Society – SOPANOP) / Courso.

Fecha: del 12 al 14 de octubre de 2014

Dónde: Cancún. México

Web: www.sopanop.com

• 2014 AAO ANNUAL MEETING

Fecha: del 18 al 21 de octubre de 2014

Dónde: Chicago

Web: www.aao.org

• XXXVI INTER-AMERICAN COURSE IN CLINICAL OPHTHALMOLOGY

Fecha: del 26 al 29 de octubre de 2014

Dónde: Miami. Florida

Web: bascompalmer.org

• 40th ANNUAL MEETING EPOS

Fecha: del 6 al 8 de noviembre de 2014

Dónde: Barcelona

Web: www.epos_focus.org

• XXI JORNADAS DE LA SOCIEDAD DE OFTALMOLOGÍA CASTELLANO-LEONESA (SOFCALE

Fecha: 9 de noviembre de 2014

Dónde: Burgos

Web: www.scloft.org

• TRENDS IN GLAUCOMA: SURGICAL & MEDICAL MEETING

Fecha: 14 y 15 de noviembre de 2014

Dónde: Barcelona

Web: www.imo.es

• V CONGRESO ASETCIRC

Fecha: 14 y 15 de noviembre de 2014

Dónde: Barcelona

Web: www.geyseco.es

• 94° CONGRESSO NAZIONALE SOI

Fecha: del 21 al 24 de noviembre de 2014

Dónde: Roma

Web: www.congressisoi.com

• 45 CONGRESO DE LA SOCIEDAD CATALANA DE OFTALMOLOGÍA

Fecha: del 21 al 29 de noviembre de 2014

Dónde: Barcelona

Web: www.actoserveis.com

• REUNIÓN ANUAL DE LA SOCIEDAD OFTALMOLÓGICA DE MADRID

Fecha: 12 de diciembre de 2014

Dónde: Madrid

Web: www.oftalmo.com

AYUDAS A LA INVESTIGACIÓN

Convocatoria de ayudas para el fomento de la cultura científica, tecnológica y de la innovación.

www.convocatoria.fecyt.e

CONVOCATORIAS DE LA COMISIÓN EUROPEA:

• ERC Consolidator Grants ec.europa.eu
• PERSONALISING HEALTH AND CARE ec.europa.eu
• HEALTH CO-ORDINATION ACTIVITIES ec.europa.eu

Bases Ayudas destinadas a la realización de proyectos de investigación científica. Fundación Danone www.institutodanone.es

XVII Concurso Nacional para la adjudicación de Ayudas a la Investigación en Ciencias de la Vida y de la Materia. Fundación Ramón Areces www.fundacionareces.es

IX edición del programa L’ORÉAL-UNESCO For Women in Science. Convocadas cinco Bolsas de Investigación (15.000 € cada una) dirigidas a jóvenes científicas que desarrollen un proyecto de investigación en Ciencias de los Materiales en un laboratorio en España a lo largo del año 2015 www.fwis.fr

AYUDAS FUNDACIÓN BBVA A LA INVESTIGACIÓN, LA INNOVACIÓN Y LA CREACIÓN www.fbbva.es