Results 21 to 30 of about 9,112 (206)
BMC Ophthalmology, 2012 Background Retinal dystrophies display a considerably wide range of phenotypic variability, which can make diagnosis and clinical staging difficult.
Maurizio Battaglia +6 more
doaj +1 more source
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
VisionThe purpose was to define the threshold of normal visual acuity (VA), mean monocular and binocular VA, and interocular difference in the uniform cohort of healthy four-year-old children. All the children were recruited from the Croatian National Registry
Mirjana Bjeloš +4 more
doaj +1 more source
Gene Therapy in Retinal Dystrophies [PDF]
International Journal of Molecular Sciences, 2019 Inherited retinal dystrophies (IRDs) are a group of clinically and genetically heterogeneous degenerative disorders. To date, mutations have been associated with IRDs in over 270 disease genes, but molecular diagnosis still remains elusive in about a third of cases. The methodologic developments in genome sequencing techniques that we have witnessed in
Ziccardi L +6 more
openaire +3 more sources
Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism
DiagnosticsWe present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p.
Mirjana Bjeloš +4 more
doaj +1 more source
Российский офтальмологический журнал, 2018 The article highlights the modern aspects of etiology and pathogenesis of the development of retinal dystrophies associated with myopia and age-related macular degeneration.
I. B. Alekseev +2 more
doaj +1 more source
Low‐contrast visual acuity versus low‐luminance visual acuity in choroideremia
Clinical and Experimental Optometry, EarlyView., 2020 Clinical relevance Choroideremia is a progressive X‐linked inherited rod‐cone dystrophy. Patients present with nyctalopia and progressive visual field loss, but visual acuity remains well preserved early on. This study showed that low‐luminance visual acuity may be a useful clinical outcome measure during earlier disease stages.
Laura J Wood +6 more
wiley +1 more source
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. [PDF]
PLoS ONE, 2015 This study aimed to identify the genetics underlying dominant forms of inherited retinal dystrophies using whole exome sequencing (WES) in six families extensively screened for known mutations or genes.
Berta Almoguera +19 more
doaj +1 more source
Misfolded Proteins and Retinal Dystrophies [PDF]
, 2009 Many mutations associated with retinal degeneration lead to the production of misfolded proteins by cells of the retina. Emerging evidence suggests that these abnormal proteins cause cell death by activating the Unfolded Protein Response, a set of conserved intracellular signaling pathways that detect protein misfolding within the endoplasmic reticulum
Jonathan H, Lin, Matthew M, Lavail
openaire +2 more sources