Results 11 to 20 of about 370,744 (189)

Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies

open access: yesBiomolecules, 2023
Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley   +3 more
doaj   +2 more sources

The landscape of basic gene therapy approaches in inherited retinal dystrophies [PDF]

open access: yesFrontiers in Ophthalmology, 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).
Jianhua Xia, Lei Gu, Qing Pan
doaj   +2 more sources

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

open access: yesMolecular Therapy: Nucleic Acids, 2023
Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles   +4 more
doaj   +1 more source

Descriptive study of a cohort of 488 patients with inherited retinal dystrophies [PDF]

open access: yes, 2021
Producción CientíficaABSTRACT. PURPOSE: To analyze the distribution of inherited retinal diseases (IRDs), describe the clinical characteristics of patients, and determine the percentages of patients with genetic diagnosis in the Castilla y Leon region of
Coco Martín, Rosa María   +4 more
core   +1 more source

Inherited Macular Dystrophies and Differential Diagnostics [PDF]

open access: yes, 2012
The inherited macular dystrophies are characterized by different grade central visual loss and different character macula atrophy, because of retinal pigment epithelium lesion. The cause of photoreceptors degeneration is still not known. In this article,
Virginija Ašmonienė   +5 more
core   +2 more sources

Updating the Genetic Landscape of Inherited Retinal Dystrophies

open access: yesFrontiers 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   +1 more source

Gene therapy for inherited retinal dystrophies. [PDF]

open access: yes, 2023
Inherited retinal dystrophies are a group of relatively rare genetic disorders that cause progressive degeneration of the retina, leading to vision loss, which causes lots of difficulties and challenges to patients in everyday life.
Kobeckis, Kamilis,
core  

Evidenzbasierte Diagnostik hereditärer Netzhautdystrophien 2009 = Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009 [PDF]

open access: yes, 2009
Background: Hereditary retinal dystrophies comprise a heterogeneous group of inherited retinal disorders with variable clinical presentation and multiple associated genes. Clinical diagnosis and differential diagnosis are difficult.
Weber, Bernhard H. F.   +5 more
core   +1 more source

Light-induced charge generation in polymeric nanoparticles restores vision in advanced-stage retinitis pigmentosa rats

open access: yesNature Communications, 2022
Retinal dystrophies such as Retinitis pigmentosa are among the most prevalent causes of inherited incurable legal blindness. Here the authors demonstrate that conjugated polymer nanoparticles reinstate visual functions in aged rats with fully degenerated
S. Francia   +19 more
doaj   +1 more source

Gene therapy for inherited retinal dystrophies [PDF]

open access: yes, 2009
The inherited retinal dystrophies comprise a large number of disorders characterized by a slow and progressive retinal degeneration. They are the result of mutations in genes that express in either the photoreceptor cells or the retinal pigment ...
Côco, Monique [UNIFESP]   +2 more
core   +1 more source

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