Panel‐based next‐generation sequencing identifies novel mutations in Bulgarian patients with inherited retinal dystrophies
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1997
Abstract: Next‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently,… read more here.
Keywords: bulgarian patients; mutations bulgarian; inherited retinal; next generation ... See more keywords
Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7522-8_5
Abstract: Antisense oligonucleotides (AONs) are small molecules able to bind to the pre-mRNA and modulate splicing. The increasing amount of intronic mutations leading to pseudoexon insertion in genes underlying inherited retinal dystrophies (IRDs) has highlighted the… read more here.
Keywords: correct pre; retinal dystrophies; mrna splicing; pre mrna ... See more keywords
Morpho-functional survey in children suspected of inherited retinal dystrophies via video recording, electrophysiology and genetic analysis
Sign Up to like & getrecommendations! Published in 2020 at "International Ophthalmology"
DOI: 10.1007/s10792-020-01432-2
Abstract: Purpose To present a detailed study matching functional response and video imaging with genetic analysis in children suspected of inherited retinal dystrophy (IRD). Methods Sixteen children underwent fundus examination via video recording (Heine Omega 500… read more here.
Keywords: video; children suspected; analysis; suspected inherited ... See more keywords
The Blunt End: Surgical Challenges of Gene Therapy for Inherited Retinal Diseases.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.08.038
Abstract: PURPOSE To review barriers to effective transduction of cells in the subretinal plane during gene therapy surgery for inherited retinal dystrophies (IRD). DESIGN Perspective. METHODS Case-based learning in clinical trials and commercial applications of gene… read more here.
Keywords: end surgical; gene therapy; blunt end; inherited retinal ... See more keywords
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.09.024
Abstract: PURPOSE To delineate the natural history of visual parameters over time in individuals with biallelic RPE65 mutation-associated inherited retinal dystrophy (IRD); describe the range of causative mutations; determine potential genotype/phenotype relationships; and describe the variety… read more here.
Keywords: natural history; rpe65 mutation; inherited retinal; rpe65 ... See more keywords
Differences in Intraretinal Pigment Migration Across Inherited Retinal Dystrophies.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.05.010
Abstract: PURPOSE To determine whether there is a difference in the prevalence of intraretinal pigment migration (IPM) across age and genetic etiologies of inherited retinal dystrophies (IRDs). DESIGN Retrospective cohort study. METHODS Patients were evaluated at… read more here.
Keywords: pigment migration; retinal dystrophies; intraretinal pigment; pigment ... See more keywords
The Michigan Vision-related Anxiety Questionnaire: A Psychosocial Outcomes Measure for Inherited Retinal Degenerations.
Sign Up to like & getrecommendations! Published in 2020 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2020.12.001
Abstract: PURPOSE Construct and validate a patient-reported outcome measure for screening and monitoring vision-related anxiety in patients with inherited retinal degenerations. DESIGN Item-response theory and graded response modeling to quantitatively validate questionnaire items generated from qualitative… read more here.
Keywords: related anxiety; anxiety; vision related; questionnaire ... See more keywords
Challenges of cost-effectiveness analyses of novel therapeutics for Inherited Retinal Diseases: Cost-effectiveness analysis in Inherited Retinal Diseases.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.08.009
Abstract: PURPOSE To discuss the challenges and potential improvement strategies of cost-effectiveness analyses performed for therapeutics targeting inherited retinal diseases. DESIGN Perspective METHODS: : Literature review with discussion of current limitations and improvement recommendations. RESULTS Cost-effectiveness… read more here.
Keywords: inherited retinal; cost; health; cost effectiveness ... See more keywords
Inherited retinal dystrophies
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DOI: 10.1016/j.paed.2019.10.004
Abstract: 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… read more here.
Keywords: inherited retinal; retinal dystrophies;
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Sign Up to like & getrecommendations! Published in 2017 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2017.03.003
Abstract: &NA; The identification of the genes underlying monogenic diseases has been of interest to clinicians and scientists for many years. Using inherited retinal dystrophies as an example of monogenic disease we describe the history of… read more here.
Keywords: genetics; retinal dystrophies; disease; identification ... See more keywords
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives
Sign Up to like & getrecommendations! Published in 2020 at "Progress in Retinal and Eye Research"
DOI: 10.1016/j.preteyeres.2019.100827
Abstract: Due to improved phenotyping and genetic characterization, the field of 'incurable' and 'blinding' inherited retinal diseases (IRDs) has moved substantially forward. Decades of ascertainment of IRD patient data from Philadelphia and Toronto centers illustrate the… read more here.
Keywords: clinical trials; progress treating; therapy; inherited retinal ... See more keywords