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Following the implementation of next-generation sequencing technologies (e.g., exome and genome sequencing) in molecular diagnostics, the majority of genetic defects underlying inherited retinal disease (IRD) can readily be identified. In parallel, opportunities to counteract the molecular consequences of these defects are rapidly emerging, providing hope for personalized medicine. ‘Classical’ gene augmentation therapy has been under study for several genetic subtypes of IRD and can be considered a safe and sometimes effective therapeutic strategy. The recent market approval of the first retinal gene augmentation therapy product (LuxturnaTM, for individuals with bi-allelic RPE65 mutations) by the FDA has not only demonstrated the potential of this specific approach, but also opened avenues for the development of other strategies. However, every gene—or even every mutation—may need a tailor-made therapeutic approach, in order to obtain the most efficacious strategy with minimal risks associated. In addition to gene augmentation therapy, other subtypes of molecular therapy are currently being designed and/or implemented, including splice modulation, DNA or RNA editing, optogenetics and pharmacological modulation. In addition, the development of proper delivery vectors has gained strong attention, and should not be overlooked when designing and testing a novel therapeutic approach. In this Special Issue, we aim to describe the current state of the art of molecular therapeutics for IRD, and discuss existing and novel therapeutic strategies, from idea to implementation, and from bench to bedside.

Research & information: general --- Biology, life sciences --- induced pluripotent stem cell (iPSC) --- clustered regularly interspaced short palindromic repeats (CRISPR) --- homology-directed repair (HDR) --- Enhanced S-Cone Syndrome (ESCS) --- NR2E3 --- AAV --- retina --- gene therapy --- dual AAV --- gold nanoparticles --- DNA-wrapped gold nanoparticles --- ARPE-19 cells --- retinal pigment epithelium --- clathrin-coated vesicles --- endosomal trafficking --- retinitis pigmentosa --- autosomal dominant --- G56R --- putative dominant negative effect --- gapmer antisense oligonucleotides --- allele-specific knockdown --- Leber congenital amaurosis and allied retinal ciliopathies --- CEP290 --- Flanders founder c.4723A &gt --- T nonsense mutation --- Cilia elongation --- spontaneous nonsense correction --- AON-mediated exon skipping --- microRNA --- photoreceptors --- rods --- cones --- bipolar cells --- Müller glia --- retinal inherited disorders --- retinal degeneration --- antisense oligonucleotides --- Stargardt disease --- inherited retinal diseases --- splicing modulation --- RNA therapy --- ABCA4 --- iPSC-derived photoreceptor precursor cells --- cyclic GMP --- apoptosis --- necrosis --- drug delivery systems --- translational medicine --- Usher syndrome --- Leber congenital amaurosis --- RPE65 --- nonprofit --- patient registry --- translational --- protein trafficking --- protein folding --- protein degradation --- chaperones --- chaperonins --- heat shock response --- unfolded protein response --- autophagy --- therapy --- IRD --- DNA therapies --- RNA therapies --- compound therapies --- clinical trials --- Retinitis Pigmentosa GTPase Regulator --- adeno-associated viral --- Retinitis Pigmentosa (RP) --- choroideremia --- REP1 --- inherited retinal disease --- treatment --- apical polarity --- crumbs complex --- fetal retina --- PAR complex --- retinal organoids --- retinogenesis --- gene augmentation --- adeno-associated virus (AAV) --- induced pluripotent stem cell (iPSC) --- clustered regularly interspaced short palindromic repeats (CRISPR) --- homology-directed repair (HDR) --- Enhanced S-Cone Syndrome (ESCS) --- NR2E3 --- AAV --- retina --- gene therapy --- dual AAV --- gold nanoparticles --- DNA-wrapped gold nanoparticles --- ARPE-19 cells --- retinal pigment epithelium --- clathrin-coated vesicles --- endosomal trafficking --- retinitis pigmentosa --- autosomal dominant --- G56R --- putative dominant negative effect --- gapmer antisense oligonucleotides --- allele-specific knockdown --- Leber congenital amaurosis and allied retinal ciliopathies --- CEP290 --- Flanders founder c.4723A &gt --- T nonsense mutation --- Cilia elongation --- spontaneous nonsense correction --- AON-mediated exon skipping --- microRNA --- photoreceptors --- rods --- cones --- bipolar cells --- Müller glia --- retinal inherited disorders --- retinal degeneration --- antisense oligonucleotides --- Stargardt disease --- inherited retinal diseases --- splicing modulation --- RNA therapy --- ABCA4 --- iPSC-derived photoreceptor precursor cells --- cyclic GMP --- apoptosis --- necrosis --- drug delivery systems --- translational medicine --- Usher syndrome --- Leber congenital amaurosis --- RPE65 --- nonprofit --- patient registry --- translational --- protein trafficking --- protein folding --- protein degradation --- chaperones --- chaperonins --- heat shock response --- unfolded protein response --- autophagy --- therapy --- IRD --- DNA therapies --- RNA therapies --- compound therapies --- clinical trials --- Retinitis Pigmentosa GTPase Regulator --- adeno-associated viral --- Retinitis Pigmentosa (RP) --- choroideremia --- REP1 --- inherited retinal disease --- treatment --- apical polarity --- crumbs complex --- fetal retina --- PAR complex --- retinal organoids --- retinogenesis --- gene augmentation --- adeno-associated virus (AAV)

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Vision is the most important sense in higher mammals. The retina is the first step in visual processing and the window to the brain. It is not surprising that problems arising in the retina lead to moderate to severe visual impairments. We offer here a collection of reviews as well as original papers dealing with various aspects of retinal function as well as dysfunction. New approaches in retinal research are described, such as the expression and localization of the endocannabinoid system in the normal retina and the role of cannabinoid receptors that could offer new avenues of research in the development of potential treatments for retinal diseases. Moreover, new insights are offered in advancing knowledge towards the prevention and cure of visual pathologies, mainly AMD, RP, and diabetic retinopathy.

Medicine --- Neurosciences --- eye --- retina --- development --- vascularization --- hypoxia --- autophagy --- programmed cell death --- cellular senescence --- retinogenesis --- altricial bird species --- precocial bird species --- senescence-associated galactosidase activity --- diabetes mellitus --- retinopathy --- microvascular --- complication --- optical coherence tomography --- angiography --- black --- African-American --- systemic disease --- biomarker --- retinal degenerative diseases --- mesenchymal stem cells --- stem cell therapy --- experimental models --- clinical trials --- AMD --- age-related macular degeneration --- trichostatin A (TSA) --- HDAC --- histone deacetylase --- vascular endothelial growth factor (VEGF) --- retinal degeneration --- endoplasmic reticulum --- stress response --- unfolded protein response --- GRP78 --- retinal glial cell --- diabetic retinopathy --- zebrafish --- neurovascular unit --- microvascular complications and dysfunction --- metabolism --- motor protein --- myosin 1C --- photoreceptor --- rhodopsin --- outer segments --- visual function --- macroglia --- astrocytes --- Müller cells --- optic nerve crush --- retinal ganglion cells --- spinal cord injury --- signal transducer and activator of transcription 3 --- epidermal growth factor --- Drp1 --- apoptosis --- mitochondria --- microglia --- neurodegeneration --- multiple sclerosis --- retinal microglia --- microglia morphotype --- light damage --- functional analysis --- early detection --- remodeling --- lactate --- GPR81 --- HCAR1 --- growth cone --- dLGN --- axon --- 3,5-DHBA --- kallikrein-kinin system --- kinin receptors --- GFAP --- osteopontin --- retinal detachment --- diabetes --- antioxidants --- bioenergetics --- respiration --- ATP --- glucagon-like peptide-1 --- exendin-4 --- catalase --- immunohistochemistry --- electron microscopy --- Charles Bonnet syndrome --- EEG --- visual hallucination --- resting state --- high-fat diet --- gut microbiome --- gut-retina axis --- RNA sequencing --- germ-free mice --- complement cascade --- angiogenesis --- retinal inflammation --- AII amacrine cell --- Prox1 --- parvalbumin --- gap junction --- eccentricity --- ON/OFF asymmetry --- arterioles --- betulinic acid --- ischemia-reperfusion injury --- reactive oxygen species --- retinal vessels --- retinal fluorescence imaging --- amyloid --- cognitive decline --- Alzheimer's disease --- optic neuritis --- oxidative stress --- neuroprotection --- fingolimod --- iPSC-RPE --- retinal pigment epithelium --- immunodeficient RCS rat --- ultrathin parylene --- retinal transplantation --- CD4+CD25+ --- inflammation --- iPSC --- typical cannabinoid receptors --- atypical cannabinoid receptors --- electroretinography --- monkeys --- visual system --- eye inflammation --- lipopolysaccharide --- natural bioactive extracts --- Ac2-26 --- FPR receptor --- inflammatory mediators --- retinal light injury --- LED screen --- optical filter --- retinal protection --- regeneration --- progenitor cell --- hyperglycemia --- photoreceptors --- neurod --- Notch --- eye --- retina --- development --- vascularization --- hypoxia --- autophagy --- programmed cell death --- cellular senescence --- retinogenesis --- altricial bird species --- precocial bird species --- senescence-associated galactosidase activity --- diabetes mellitus --- retinopathy --- microvascular --- complication --- optical coherence tomography --- angiography --- black --- African-American --- systemic disease --- biomarker --- retinal degenerative diseases --- mesenchymal stem cells --- stem cell therapy --- experimental models --- clinical trials --- AMD --- age-related macular degeneration --- trichostatin A (TSA) --- HDAC --- histone deacetylase --- vascular endothelial growth factor (VEGF) --- retinal degeneration --- endoplasmic reticulum --- stress response --- unfolded protein response --- GRP78 --- retinal glial cell --- diabetic retinopathy --- zebrafish --- neurovascular unit --- microvascular complications and dysfunction --- metabolism --- motor protein --- myosin 1C --- photoreceptor --- rhodopsin --- outer segments --- visual function --- macroglia --- astrocytes --- Müller cells --- optic nerve crush --- retinal ganglion cells --- spinal cord injury --- signal transducer and activator of transcription 3 --- epidermal growth factor --- Drp1 --- apoptosis --- mitochondria --- microglia --- neurodegeneration --- multiple sclerosis --- retinal microglia --- microglia morphotype --- light damage --- functional analysis --- early detection --- remodeling --- lactate --- GPR81 --- HCAR1 --- growth cone --- dLGN --- axon --- 3,5-DHBA --- kallikrein-kinin system --- kinin receptors --- GFAP --- osteopontin --- retinal detachment --- diabetes --- antioxidants --- bioenergetics --- respiration --- ATP --- glucagon-like peptide-1 --- exendin-4 --- catalase --- immunohistochemistry --- electron microscopy --- Charles Bonnet syndrome --- EEG --- visual hallucination --- resting state --- high-fat diet --- gut microbiome --- gut-retina axis --- RNA sequencing --- germ-free mice --- complement cascade --- angiogenesis --- retinal inflammation --- AII amacrine cell --- Prox1 --- parvalbumin --- gap junction --- eccentricity --- ON/OFF asymmetry --- arterioles --- betulinic acid --- ischemia-reperfusion injury --- reactive oxygen species --- retinal vessels --- retinal fluorescence imaging --- amyloid --- cognitive decline --- Alzheimer's disease --- optic neuritis --- oxidative stress --- neuroprotection --- fingolimod --- iPSC-RPE --- retinal pigment epithelium --- immunodeficient RCS rat --- ultrathin parylene --- retinal transplantation --- CD4+CD25+ --- inflammation --- iPSC --- typical cannabinoid receptors --- atypical cannabinoid receptors --- electroretinography --- monkeys --- visual system --- eye inflammation --- lipopolysaccharide --- natural bioactive extracts --- Ac2-26 --- FPR receptor --- inflammatory mediators --- retinal light injury --- LED screen --- optical filter --- retinal protection --- regeneration --- progenitor cell --- hyperglycemia --- photoreceptors --- neurod --- Notch

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Vision is the most important sense in higher mammals. The retina is the first step in visual processing and the window to the brain. It is not surprising that problems arising in the retina lead to moderate to severe visual impairments. We offer here a collection of reviews as well as original papers dealing with various aspects of retinal function as well as dysfunction. New approaches in retinal research are described, such as the expression and localization of the endocannabinoid system in the normal retina and the role of cannabinoid receptors that could offer new avenues of research in the development of potential treatments for retinal diseases. Moreover, new insights are offered in advancing knowledge towards the prevention and cure of visual pathologies, mainly AMD, RP, and diabetic retinopathy.

eye --- retina --- development --- vascularization --- hypoxia --- autophagy --- programmed cell death --- cellular senescence --- retinogenesis --- altricial bird species --- precocial bird species --- senescence-associated galactosidase activity --- diabetes mellitus --- retinopathy --- microvascular --- complication --- optical coherence tomography --- angiography --- black --- African-American --- systemic disease --- biomarker --- retinal degenerative diseases --- mesenchymal stem cells --- stem cell therapy --- experimental models --- clinical trials --- AMD --- age-related macular degeneration --- trichostatin A (TSA) --- HDAC --- histone deacetylase --- vascular endothelial growth factor (VEGF) --- retinal degeneration --- endoplasmic reticulum --- stress response --- unfolded protein response --- GRP78 --- retinal glial cell --- diabetic retinopathy --- zebrafish --- neurovascular unit --- microvascular complications and dysfunction --- metabolism --- motor protein --- myosin 1C --- photoreceptor --- rhodopsin --- outer segments --- visual function --- macroglia --- astrocytes --- Müller cells --- optic nerve crush --- retinal ganglion cells --- spinal cord injury --- signal transducer and activator of transcription 3 --- epidermal growth factor --- Drp1 --- apoptosis --- mitochondria --- microglia --- neurodegeneration --- multiple sclerosis --- retinal microglia --- microglia morphotype --- light damage --- functional analysis --- early detection --- remodeling --- lactate --- GPR81 --- HCAR1 --- growth cone --- dLGN --- axon --- 3,5-DHBA --- kallikrein-kinin system --- kinin receptors --- GFAP --- osteopontin --- retinal detachment --- diabetes --- antioxidants --- bioenergetics --- respiration --- ATP --- glucagon-like peptide-1 --- exendin-4 --- catalase --- immunohistochemistry --- electron microscopy --- Charles Bonnet syndrome --- EEG --- visual hallucination --- resting state --- high-fat diet --- gut microbiome --- gut-retina axis --- RNA sequencing --- germ-free mice --- complement cascade --- angiogenesis --- retinal inflammation --- AII amacrine cell --- Prox1 --- parvalbumin --- gap junction --- eccentricity --- ON/OFF asymmetry --- arterioles --- betulinic acid --- ischemia-reperfusion injury --- reactive oxygen species --- retinal vessels --- retinal fluorescence imaging --- amyloid --- cognitive decline --- Alzheimer’s disease --- optic neuritis --- oxidative stress --- neuroprotection --- fingolimod --- iPSC-RPE --- retinal pigment epithelium --- immunodeficient RCS rat --- ultrathin parylene --- retinal transplantation --- CD4+CD25+ --- inflammation --- iPSC --- typical cannabinoid receptors --- atypical cannabinoid receptors --- electroretinography --- monkeys --- visual system --- eye inflammation --- lipopolysaccharide --- natural bioactive extracts --- Ac2-26 --- FPR receptor --- inflammatory mediators --- retinal light injury --- LED screen --- optical filter --- retinal protection --- regeneration --- progenitor cell --- hyperglycemia --- photoreceptors --- neurod --- Notch --- n/a --- Müller cells --- Alzheimer's disease