Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies. [PDF]
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Manley A +3 more
europepmc +4 more sources
Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies [PDF]
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 +4 more sources
Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review. [PDF]
Ophthalmol SciTopic: Inherited retinal dystrophies (IRDs) encompass a group of phenotypically and genetically heterogeneous disorders leading to progressive visual impairment.
Ibrahim M, Chebly A, El Shamieh S.
europepmc +2 more sources
The genetic landscape of inherited retinal dystrophies in Arabs. [PDF]
BMC Med 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
Jaffal L +7 more
europepmc +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
europepmc +2 more sources
The landscape of basic gene therapy approaches in inherited retinal dystrophies. [PDF]
Front Ophthalmol (Lausanne), 2023 The study of gene therapies has been of particular interest in recent decades due to their promising potential to slow or even rescue the degeneration of the retina in inherited retinal dystrophies (IRDs).
Xia J, Gu L, Pan Q.
europepmc +2 more sources
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico. [PDF]
BMC OphthalmolBackground 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.
Villafuerte-de la Cruz RA +14 more
europepmc +2 more sources
Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients. [PDF]
Curr Issues Mol BiolRetinitis pigmentosa (RP) encompasses a diverse range of hereditary, degenerative retinal ailments, presenting notable obstacles to molecular genetic diagnoses due to the intricate array of variants in different genes involved.
Park Y, Kim Y, Koh I, Lee JY.
europepmc +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
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