Results 21 to 30 of about 5,980 (178)
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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Whole-Exome Sequencing Improves Understanding of Inherited Retinal Dystrophies in Korean Patients [PDF]
Current Issues in Molecular BiologyRetinitis 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.
Youngchan Park +3 more
doaj +2 more sources
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
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Molecular 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]
, 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
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Inherited retinal dystrophies [PDF]
Paediatrics and Child Health, 2020 Abstract Inherited retinal dystrophies (IRD) are a diverse group of progressive blinding genetic diseases that can present from birth through to late middle age. Symptoms include loss of night vision, visual field, colour, and central acuity. Sophisticated imaging modalities and electrophysiology permit genotype–phenotype correlations.
openaire +1 more source
Innate and Autoimmunity in the Pathogenesis of Inherited Retinal Dystrophy [PDF]
Cells, 2020 Inherited retinal dystrophies (RDs) are heterogenous in many aspects including genes involved, age of onset, rate of progression, and treatments. While RDs are caused by a plethora of different mutations, all result in the same outcome of blindness. While treatments, both gene therapy-based and drug-based, have been developed to slow or halt disease ...
T. J. Hollingsworth, Alecia K. Gross
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The Special Electrophysiological Signs of Inherited Retinal Dystrophies [PDF]
The Open Ophthalmology Journal, 2012 The study aim was to analyze the electrophysiological signs of inherited retinal dystrophies (IRD). Full-field and multifocal (mf) electroretinography (ERG) was analysed in three groups: 21 normal subjects, 21 randomly selected IRD patients, and 21 patients randomly selected from each of eleven IRD groups.
Prokofyeva, Elena +2 more
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microRNAs and inherited retinal dystrophies [PDF]
Proceedings of the National Academy of Sciences, 2015 Inherited retinal dystrophies (IRD) are a heterogeneous group of blinding diseases that affect more than 200,000 Americans and millions worldwide (1). Identification of genes that are responsible for IRD when defective is of great importance to the basic understanding as well as development of efficient gene diagnosis and treatment.
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Evidenzbasierte Diagnostik hereditärer Netzhautdystrophien 2009 = Evidence-Based Diagnostic Approach to Inherited Retinal Dystrophies 2009 [PDF]
, 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