Results 21 to 30 of about 48,210 (290)
Genetics of Inherited Retinal Diseases in Understudied Populations
Frontiers in Genetics, 2022 Retinitis pigmentosa is one of the major forms of inherited retinal dystrophy transmitted in all Mendelian and non-Mendelian forms of inheritance. It involves the loss of retinal photoreceptor cells with severe loss of vision or blindness within the ...
Chitra Kannabiran +5 more
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De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa. [PDF]
, 2016 BackgroundRetinitis pigmentosa is a phenotype with diverse genetic causes. Due to this genetic heterogeneity, genome-wide identification and analysis of protein-altering DNA variants by exome sequencing is a powerful tool for novel variant and disease ...
Abelazeem, Amira A +10 more
core +7 more sources
International Journal of Molecular Sciences, 2022 Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases that cause vision loss due to abnormal development or due to the dysfunction or degeneration of the photoreceptors or the retinal pigment epithelium [...]
openaire +2 more sources
Gene therapy for inherited retinal diseases [PDF]
Annals of Translational Medicine, 2021 Inherited retinal diseases (IRDs) are a genetically variable collection of devastating disorders that lead to significant visual impairment. Advances in genetic characterization over the past two decades have allowed identification of over 260 causative mutations associated with inherited retinal disorders. Thought to be incurable, gene supplementation
Nuzbrokh, Yan +2 more
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Metabolism Dysregulation in Retinal Diseases and Related Therapies
Antioxidants, 2022 The human retina, which is part of the central nervous system, has exceptionally high energy demands that requires an efficient metabolism of glucose, lipids, and amino acids.
Yingying Chen +8 more
doaj +1 more source
Frontiers in Transplantation, 2023 Stem cell therapies can potentially treat various retinal degenerative diseases, including age-related macular degeneration (AMD) and inherited retinal diseases like retinitis pigmentosa.
Davinia Beaver, Ioannis Jason Limnios
doaj +1 more source
Targeting molecular pathways for the treatment of inherited retinal degeneration
Neural Regeneration Research, 2020 Inherited retinal degeneration is a major cause of incurable blindness characterized by loss of retinal photoreceptor cells. Inherited retinal degeneration is characterized by high genetic and phenotypic heterogeneity with several genes mutated in ...
Meltem Kutluer, Li Huang, Valeria Marigo
doaj +1 more source
Genetic testing and diagnosis of inherited retinal diseases
Orphanet Journal of Rare Diseases, 2021 Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and blindness.
Byron L. Lam +5 more
doaj +1 more source
Inherited Retinal Disease Therapies Targeting Precursor Messenger Ribonucleic Acid
Vision, 2017 Inherited retinal diseases are an extremely diverse group of genetically and phenotypically heterogeneous conditions characterized by variable maturation of retinal development, impairment of photoreceptor cell function and gradual loss of photoreceptor ...
Di Huang +6 more
doaj +1 more source
iPS Cells for Modelling and Treatment of Retinal Diseases [PDF]
, 2014 For many decades, we have relied on immortalised retinal cell lines, histology of enucleated human eyes, animal models, clinical observation, genetic studies and human clinical trials to learn more about the pathogenesis of retinal diseases and explore ...
Chen, Fred K. +5 more
core +3 more sources