Results 1 to 10 of about 335 (109)
Relative frequency of inherited retinal dystrophies in Brazil [PDF]
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 +2 more
exaly +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
Retinal Inflammation, Cell Death and Inherited Retinal Dystrophies [PDF]
International Journal of Molecular Sciences, 2021 Inherited retinal dystrophies (IRDs) are a group of retinal disorders that cause progressive and severe loss of vision because of retinal cell death, mainly photoreceptor cells. IRDs include retinitis pigmentosa (RP), the most common IRD. IRDs present a genetic and clinical heterogeneity that makes it difficult to achieve proper treatment.
Lorena Olivares-González +2 more
exaly +6 more sources
Updating the Genetic Landscape of Inherited Retinal Dystrophies [PDF]
Frontiers in Cell and Developmental Biology, 2021 Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity.
Belén García Bohórquez +13 more
doaj +5 more sources
The genetic landscape of inherited retinal dystrophies in Arabs
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 +3 more sources
Gene discovery and prevalence in inherited retinal dystrophies
Comptes Rendus - Biologies, 2014 Inherited retinal dystrophies are Mendelian neurodegenerative conditions classified as pigmentary retinopathies, macular dystrophies and others. Over a 21-year period, from 1990 to 2011, we have screened in Montpellier 107 genes in 609 families and have identified a causal mutation in 68.5% of them.
Christian P Hamel
exaly +3 more sources
Management and treatment of inherited retinal dystrophies
Taiwan Journal of Ophthalmology, 2021 Sarah R Levi +2 more
doaj +3 more sources
Choroidal Thickness in Different Types of Inherited Retinal Dystrophies
Journal of Ophthalmic & Vision Research, 2020 Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi +9 more
doaj +4 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
INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]
The Journal of Cell Biology, 1962 Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
openaire +2 more sources