Machine Learning–Based Classification of Active and Latent Phases of Inherited Retinal Dystrophies Using Synthetic Proteomic Data: A Pathway-Based Application Exercise [PDF]
Healthcare Informatics ResearchObjectives Inherited retinal dystrophies are characterized by high genetic and phenotypic heterogeneity, and their clinical progression may alternate between latent and active phases.
Alessandro Macchia +19 more
doaj +2 more sources
Relative frequency of inherited retinal dystrophies in Brazil
Scientific Reports, 2018 Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246
Fabiana Louise Motta +4 more
doaj +2 more sources
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review [PDF]
Ophthalmology ScienceTopic: Inherited retinal dystrophies (IRDs) encompass a group of phenotypically and genetically heterogeneous disorders leading to progressive visual impairment.
Mariam Ibrahim, MSc +2 more
doaj +2 more sources
The genetic landscape of inherited retinal dystrophies in Arabs [PDF]
BMC Medical Genomics, 2023 Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting substantial differences worldwide. To shed more light on these conditions, we investigated the genetic
Lama Jaffal +7 more
doaj +2 more sources
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico [PDF]
BMC OphthalmologyBackground Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity.
Rocio A. Villafuerte-de la Cruz +14 more
doaj +2 more sources
Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies [PDF]
CellsGene editing, particularly CRISPR/Cas technology, represents a promising approach for the treatment of rare genetic diseases, including inherited retinal dystrophies, for which effective therapies are largely unavailable.
Laura Siles +3 more
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Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies [PDF]
Journal of Clinical Medicine, 2023 TsunKang Chiang, Minzhong Yu
exaly +2 more sources
Current Issues in Molecular Biology, 2022 RPE65, an abundant membrane-associated protein present in the retinal pigment epithelium (RPE), is a vital retinoid isomerase necessary for regenerating 11-cis-retinaldehyde from all-trans retinol in the visual cycle.
Mirjana Bjeloš +4 more
doaj +1 more source
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies
Frontiers in Cell and Developmental Biology, 2021 Retinal dystrophies (RD) are a group of Mendelian disorders caused by rare genetic variations leading to blindness. A pathogenic variant may manifest in both dominant or recessive mode and clinical and genetic heterogeneity makes it difficult to ...
Imen Habibi +8 more
doaj +1 more source
Oxidative Stress as a Main Contributor of Retinal Degenerative Diseases
Antioxidants, 2022 Retinal degenerative diseases, including inherited retinal dystrophies (IRDs) and acquired multifactorial diseases, such as age-related macular degeneration (AMD), diabetic retinopathy (DR) or ganglion cell damage secondary to glaucoma or other ...
Isabel Pinilla, Victoria Maneu
doaj +1 more source