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
A Practical Approach to Retinal Dystrophies.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-95046-4_51
Abstract: Genomic approaches to developing new diagnostic and therapeutic strategies in retinal dystrophies are among the most advanced applications of genetics (Tsang SH, Gouras P (1996) Molecular physiology and pathology of the retina. In: Duane TD,… read more here.
Keywords: practical approach; approach retinal; retinal dystrophies; pathology ... 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
CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2021.07.021
Abstract: PURPOSE To describe the natural disease course of CRB1-associated retinal dystrophies, and to identify clinical endpoints for future clinical trials. DESIGN Single center, prospective case series. METHODS An investigator-initiated nationwide collaborative study that included 22… read more here.
Keywords: retinal dystrophies; associated retinal; future clinical; crb1 associated ... See more keywords
Inherited retinal dystrophies
Sign Up to like & getrecommendations! Published in 2020 at "Paediatrics and Child Health"
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
Relative frequency of inherited retinal dystrophies in Brazil
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-34380-0
Abstract: Among the Brazilian population, the frequency rates of inherited retinal dystrophies and their causative genes are underreported. To increase the knowledge about these dystrophies in our population, we retrospectively studied the medical records of 1,246… read more here.
Keywords: relative frequency; frequency inherited; retinal dystrophies; inherited retinal ... See more keywords
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies
Sign Up to like & getrecommendations! Published in 2017 at "Scientific Reports"
DOI: 10.1038/srep42078
Abstract: Inherited retinal dystrophies (IRD) comprise a wide group of clinically and genetically complex diseases that progressively affect the retina. Over recent years, the development of next-generation sequencing (NGS) methods has transformed our ability to diagnose… read more here.
Keywords: exome sequencing; using ion; diagnosis; retinal dystrophies ... See more keywords
[Gene Replacement Therapy for Inherited Retinal Dystrophies].
Sign Up to like & getrecommendations! Published in 2017 at "Klinische Monatsblatter fur Augenheilkunde"
DOI: 10.1055/s-0043-101817
Abstract: Characteristics of inherited retinal dystrophies include deficiencies in light perception and nervous conduction within the retina, leading to reduced vision or even blindness. In this context, the loss of function of photoreceptor-specific genes causes a… read more here.
Keywords: replacement therapy; retinal dystrophies; gene replacement; therapy inherited ... See more keywords
Inherited retinal dystrophies in a Kuwaiti tribe
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2045509
Abstract: ABSTRACT Purpose To evaluate the clinical and genetic spectrum of inherited retinal diseases (IRDs) in a Kuwaiti tribe. Methods Forty four patients with IRDs from 28 nuclear families from the tribe, were evaluated for presenting… read more here.
Keywords: dystrophies kuwaiti; kuwaiti tribe; inherited retinal; atrophy ... See more keywords
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2144903
Abstract: ABSTRACT Background Whether by indirect oxidative stress or direct genetic defect, various genetic retinal dystrophies involve mitochondrial stress. Mitochondrial flavoprotein fluorescence (FPF), reported as either average signal intensity or variability (heterogeneity), may serve as a… read more here.
Keywords: confirmed retinal; genetically confirmed; flavoprotein fluorescence; retinal dystrophies ... See more keywords