In humans, vision is paramount for quality of life and the impairment of sight represents a highly incapacitating condition. In vertebrates, light is captured by photoreceptors in the retina and their output constitutes the major sensory input to the brain, resulting in vision. Dietary and genetic components determine the genesis and health of photoreceptors, and mutations and/or nutritional deficiency that lead to structural and/or functional perturbations can eventually cause blindness. In humans, retinal degenerative diseases (RDDs) are a heterogeneous group of diseases characterized by progressive death of photoreceptors. RDDs can be caused by defects in proteins involved in photo transduction, synaptic transmission, RPE integrity or function, or intracellular trafficking and cilia function, or those that lead to toxic accumulation of retinoids. Each of these RDDs can lead to visual loss or complete blindness.
Retinal degenerative diseases (RDDs) are a major cause of blindness and currently have no cure. The major challenge now is to elucidate biological mechanisms of retinal disease pathogenesis, with the goal being the design of gene- or cell-based treatments. The molecular players are relatively better known in rods than in cones. Therefore, future research should focus more in this direction given the crucial role of cones in human vision. The photoreceptors heavily rely upon trafficking modules, but their identity and function is not well understood. Further research in this area can lead to new modes of drug delivery for RDDs. Additionally, many blinding diseases including, cone-rod dystrophy, retinitis pigmentosa (RP), age-related macular degeneration and Stargardt disease, are associated with toxic retinoid biogenesis and accumulation. Because ocular retinoid biosynthesis relies on circulating all-trans retinol availability and uptake, targeting the mechanisms that regulate the systemic transport of retinoids should in principle restrict further cytotoxic retinoid production. Investigations, in all these areas will likely lead to preservation of photoreceptors.
Topics of interest for this Research Topic include, but are not limited to:
• Progressive cone and rod-cone dystrophies: Prospects for therapy
• Progressive cone and rod-cone dystrophies: Mechanisms
• Nutrient based therapy in Retinal degenerative diseases
• Adeno-Associated viral gene therapy for Retinal Degenerative Diseases
• Mechanisms influencing transport and delivery of vitamin A and carotenoid’s to the eye
• Metabolomics of Age Related Macular Degeneration
• Attenuation of Inherited Retinal Degeneration Progression with gene based technology
• Oxidative stress in AMD
• Aberrant ER-UPR signaling in contributing to Retinal Degeneration
• Role of miRNAs in Retinal Degeneration
• Metabolomics in the study of retinal health and disease
• Pluripotent stem cells in attenuating Retinal Degeneration
• Zebrafish models to study Retinal Degeneration
• Cilia and Retinal Degeneration
• Glaucoma and retinal cell degeneration
• Zebrafish as models to study photoreceptor cell regeneration
In humans, vision is paramount for quality of life and the impairment of sight represents a highly incapacitating condition. In vertebrates, light is captured by photoreceptors in the retina and their output constitutes the major sensory input to the brain, resulting in vision. Dietary and genetic components determine the genesis and health of photoreceptors, and mutations and/or nutritional deficiency that lead to structural and/or functional perturbations can eventually cause blindness. In humans, retinal degenerative diseases (RDDs) are a heterogeneous group of diseases characterized by progressive death of photoreceptors. RDDs can be caused by defects in proteins involved in photo transduction, synaptic transmission, RPE integrity or function, or intracellular trafficking and cilia function, or those that lead to toxic accumulation of retinoids. Each of these RDDs can lead to visual loss or complete blindness.
Retinal degenerative diseases (RDDs) are a major cause of blindness and currently have no cure. The major challenge now is to elucidate biological mechanisms of retinal disease pathogenesis, with the goal being the design of gene- or cell-based treatments. The molecular players are relatively better known in rods than in cones. Therefore, future research should focus more in this direction given the crucial role of cones in human vision. The photoreceptors heavily rely upon trafficking modules, but their identity and function is not well understood. Further research in this area can lead to new modes of drug delivery for RDDs. Additionally, many blinding diseases including, cone-rod dystrophy, retinitis pigmentosa (RP), age-related macular degeneration and Stargardt disease, are associated with toxic retinoid biogenesis and accumulation. Because ocular retinoid biosynthesis relies on circulating all-trans retinol availability and uptake, targeting the mechanisms that regulate the systemic transport of retinoids should in principle restrict further cytotoxic retinoid production. Investigations, in all these areas will likely lead to preservation of photoreceptors.
Topics of interest for this Research Topic include, but are not limited to:
• Progressive cone and rod-cone dystrophies: Prospects for therapy
• Progressive cone and rod-cone dystrophies: Mechanisms
• Nutrient based therapy in Retinal degenerative diseases
• Adeno-Associated viral gene therapy for Retinal Degenerative Diseases
• Mechanisms influencing transport and delivery of vitamin A and carotenoid’s to the eye
• Metabolomics of Age Related Macular Degeneration
• Attenuation of Inherited Retinal Degeneration Progression with gene based technology
• Oxidative stress in AMD
• Aberrant ER-UPR signaling in contributing to Retinal Degeneration
• Role of miRNAs in Retinal Degeneration
• Metabolomics in the study of retinal health and disease
• Pluripotent stem cells in attenuating Retinal Degeneration
• Zebrafish models to study Retinal Degeneration
• Cilia and Retinal Degeneration
• Glaucoma and retinal cell degeneration
• Zebrafish as models to study photoreceptor cell regeneration
