Results 11 to 20 of about 10,766 (232)
Antioxidants, 2020 Oxidative stress represents one of the principal inductors of lifestyle-related and genetic diseases. Among them, inherited retinal dystrophies, such as age-related macular degeneration and retinitis pigmentosa, are well known to be susceptible to ...
Luigi Donato +5 more
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CDHR1 mutations in retinal dystrophies [PDF]
Scientific Reports, 2017 AbstractWe report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects.
Katarina Stingl +9 more
openaire +4 more sources
BMC Ophthalmology, 2012 Background Retinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult.
Stefano Vergallo +6 more
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Research models and gene augmentation therapy for CRB1 retinal dystrophies
Frontiers in Neuroscience, 2020 International audienceRetinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are inherited degenerative retinal dystrophies with vision loss that ultimately lead to blindness.
Wijnholds, J. +5 more
core +3 more sources
Российский офтальмологический журнал, 2018 The article highlights the modern aspects of etiology and pathogenesis of the development of retinal dystrophies associated with myopia and age-related macular degeneration.
O. M. Nepesova +2 more
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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Monica M. Jablonski +3 more
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Review Article. Role of Electrophysiological Methods in Diagnosis of Hereditary Retinal Dystrophies [PDF]
International Journal Bioautomation, 2021 The aim of the study is to present the different electrophysiological methods (EF) for study the retinal function and to highlight their importance in the diagnosis of hereditary retinal dystrophies (HRDs).
Elena Mermeklieva
doaj +1 more source
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
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Classifications of peripheral retinal dystrophies
Офтальмохирургия, 2023 Purpuse. To analyze the existing classifications of peripheral retinal dystrophies. Material and methods. While writing a literature review, a search was made for data from domestic and foreign literature, mostly in the last 20 years.
O.M. Stanishevskaya +4 more
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Paramacular Choriocapillaris Atrophy
Biomedicines, 2023 In this paper, a review of a rare case of paramacular choriocapillaris atrophy with a foveal-sparing phenotype is carried out. The 73-year-old patient stated that they had impaired vision and photophobia in both eyes during a regular ophthalmological ...
Ivona Bućan, Kajo Bućan
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