Results 41 to 50 of about 2,460,078 (269)

Emerging Drug Therapies for Inherited Retinal Dystrophies

open access: yes, 2020
Worldwide, 1 in 2000 people suffer from inherited retinal dystrophies (IRD). Individuals with IRD typically present with progressive vision loss that ultimately results in blindness. Unfortunately, effective treatment options are not widely available due
Sundaramurthi, Husvinee
core   +1 more source

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

open access: yes, 2020
Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...
Jamie M. Ellingford   +2 more
core   +1 more source

Inherited retinal diseases in Indigenous peoples: A scoping review

open access: yes, 2023
This scoping review aims to identify and synthesise studies evaluating the prevalence and diagnosis of inherited retinal diseases among Indigenous peoples ...
Alexis Ceecee Britten-Jones   +1 more
core   +1 more source

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   +1 more source

Treatment-Emergent Adverse Events in Gene Therapy Trials for Inherited Retinal Diseases: A Narrative Review

open access: yesOphthalmology and Therapy, 2020
Patient safety is a primary priority in the conduction of retinal gene therapy trials. An understanding of risk factors and mitigation strategies for post-procedure complications is crucial for the optimization of gene therapy clinical trial protocols ...
Yan Nuzbrokh   +4 more
doaj   +1 more source

Telegenetics for inherited retinal diseases in the COVID-19 environment

open access: yesInternational Journal of Retina and Vitreous, 2021
Inherited retinal diseases (IRDs) are visually debilitating conditions that affect families worldwide. They require extensive clinical testing, examination, and patient and family counseling, which are frequently accomplished over single-day extended ...
Ahmad Al-Moujahed   +4 more
doaj   +1 more source

Advancing precision medicines for ocular disorders: Diagnostic genomics to tailored therapies

open access: yesFrontiers in Medicine, 2022
Successful sequencing of the human genome and evolving functional knowledge of gene products has taken genomic medicine to the forefront, soon combining broadly with traditional diagnostics, therapeutics, and prognostics in patients.
Priyalakshmi Panikker   +4 more
doaj   +1 more source

Mutation in the guanine nucleotide-binding protein beta-3 causes retinal degeneration and embryonic mortality in chickens [PDF]

open access: yes, 2006
PURPOSE. To identify the gene defect that causes blindness and the predisposition to embryonic death in the retinopathy globe enlarged (rge) chicken.METHODS. Linkage analysis, with previously uncharacterized microsatellite markers from chicken chromosome
Hocking, Paul M.   +6 more
core   +1 more source

In vivo application of base and prime editing to treat inherited retinal diseases

open access: yes, 2023
Inherited retinal diseases (IRDs) are vision-threatening retinal disorders caused by pathogenic variants of genes related to visual functions. Genomic analyses in patients with IRDs have revealed pathogenic variants which affect vision.
김형범
core   +1 more source

Genome editing, a superior therapy for inherited retinal diseases. [PDF]

open access: yes, 2023
Gene augmentation and genome editing are promising strategies for the treatment of monogenic inherited retinal diseases. Although gene augmentation treatments are commercially available for inherited retinal diseases, there are many shortcomings that ...
Du, Samuel   +2 more
core   +1 more source

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