Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
BMC Medical Genetics, 2018 Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies using multimodal
Kirk Stephenson +6 more
doaj +1 more source
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
American Journal of Ophthalmology Case Reports, 2022 Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley +4 more
doaj +1 more source
Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. [PDF]
Genes (Basel), 2018 Wang L +7 more
europepmc +2 more sources
Inherited retinal dystrophies associated with ABCA4 mutation
Modern technologies in ophtalmology, 2023 АBСА4-associated inheredited retinal dystrophies represent a heterogeneous group of more often autosomal recessive hereditary diseases. АBСА4 mutation in 80 % of cases is the cause of Stargardt’s disease, fundus albipunctatus, but there are other phenotypes similar to retinitis pigmentosa, cone-rod retinal dystrophies.
A.D. Chuprov, E.A. Pidodniy
openaire +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
CDHR1 mutations in retinal dystrophies
Scientific Reports, 2017 We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the CDHR1 gene.
Katarina Stingl +9 more
doaj +1 more source
ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]
, 2018 Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal +18 more
core +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Treatment of Inherited Retinal Dystrophies with Somatic Cell Therapy Medicinal Product: A Review
Life, 2022 Inherited retinal dystrophies and retinal degenerations related to more common diseases (i.e., age-related macular dystrophy) are a major issue and one of the main causes of low vision in pediatric and elderly age groups. Advancement and understanding in
Giacomo Maria Bacci +5 more
doaj +1 more source
Assessing Photoreceptor Structure Associated with Ellipsoid Zone Disruptions Visualized with Optical Coherence Tomography [PDF]
, 2016 Purpose: To compare images of photoreceptor layer disruptions obtained with optical coherence tomography (OCT) and adaptive optics scanning light ophthalmoscopy (AOSLO) in a variety of pathologic states.Methods: Five subjects with photoreceptor ellipsoid
Carroll, Joseph +10 more
core +2 more sources