Results 31 to 40 of about 10,766 (232)
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
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
, 2022 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 ...
Elias I. Traboulsi (7928237) +6 more
core +1 more source
CRB1 mutations in inherited retinal dystrophies.
, 2011 International audienceMutations in the CRB1 gene are associated with variable phenotypes of severe retinal dystrophies, ranging from leber congenital amaurosis (LCA) to rod-cone dystrophy, also called retinitis pigmentosa (RP).
Lancelot, Marie-Elise +27 more
core +2 more sources
Exome Sequencing Identified Molecular Determinants of Retinal Dystrophies in Nine Consanguineous Pakistani Families [PDF]
, 2022 Inherited retinal dystrophies (IRDs) are a heterogeneous group of degenerative disorders of the retina. Retinitis Pigmentosa (RP) is a common type of IRD that causes night blindness and loss of peripheral vision and may progress to blindness.
Rui Chen +17 more
core +1 more source
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
, 2017 Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to
ÖNER, Ayşe, Ayşe Öner
core +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
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
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