A5080881071- Glaucoma and retinal disorders
- Corneal surgery and disorders
- Intraocular Surgery and Lenses
- Retinal Diseases and Treatments
- Corneal Surgery and Treatments
- Retinal Development and Disorders
- Connexins and lens biology
- Ophthalmology and Eye Disorders
- Cardiomyopathy and Myosin Studies
- Amino Acid Enzymes and Metabolism
- RNA modifications and cancer
- Sarcoidosis and Beryllium Toxicity Research
- Genomic variations and chromosomal abnormalities
- Dermatological and Skeletal Disorders
- Developmental Biology and Gene Regulation
- Connective tissue disorders research
- Protein Kinase Regulation and GTPase Signaling
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Neurogenetic and Muscular Disorders Research
- Genetic and Kidney Cyst Diseases
General University Hospital in Prague
2021-2024
Charles University
2021-2024
Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes distinct phenotypes, but our understanding incomplete, complicated the rarity condition. Methods Genetic and phenotypic characterisation largest reported cohort through comprehensive genetic clinical data analyses. Results 128 individuals variants in PITX2 FOXC1 , including 81 new cases, were...
Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up 80% European FECD cases have been attributed expansion a non-coding CTG element (termed CTG18.1) located within ubiquitously expressed transcription factor encoding gene, TCF4. The nature transcriptomic complexity TCF4 made it extremely challenging experimentally decipher molecular mechanisms underlying this disease. Here...
Abstract Four members of a three‐generation Czech family with early‐onset chorioretinal dystrophy were shown to be heterozygous carriers the n.37C>T in MIR204. The identification this previously reported pathogenic variant confirms existence distinct clinical entity caused by sequence change Chorioretinal was variably associated iris coloboma, congenital glaucoma, and premature cataracts extending phenotypic range condition. In silico analysis revealed 713 novel targets. Additionally,...
Abstract Fuchs endothelial corneal dystrophy (FECD) is an age-related cause of vision loss, and the most common repeat expansion-mediated disease in humans characterised to date. Up 80% European FECD cases have been attributed expansion a non-coding CTG element (termed CTG18.1) located within ubiquitously expressed transcription factor encoding gene, TCF4 . The nature transcriptomic complexity made it extremely challenging experimentally decipher molecular mechanisms underlying this disease....
Posterior corneal vesicles (PCVs) have clinical features that are similar to posterior polymorphous dystrophy (PPCD). To help determine whether there is a shared genetic basis, we screened 38 individuals with PCVs for changes in the three genes identified as causative PPCD.We prospectively recruited patients this study. We examined all clinically, their first-degree relatives when available. used combination of Sanger and exome sequencing screen regulatory regions OVOL2 GRHL2, entire ZEB1...
The genetic architecture of corneal endothelial dystrophies remains unknown in a substantial number affected individuals. proband investigated the current study was diagnosed neonatal period with bilateral opacification due to primary cell dysfunction. Neither his parents nor sister had signs disease. Conventional karyotyping revealed de novo translocation involving chromosomes 3 and 20, t(3;20)(q25;p11-12). Following genome targeted Sanger sequencing analysis, breakpoints were mapped at...
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy review all reported TIMP3 pathogenic variants. Two probands three first-degree relatives underwent examination retinal imaging, including optical coherence tomography angiography. The DNA of first proband was screened using a targeted gene panel, while, second proband, direct sequencing coding region performed. Sanger also used for segregation analysis within families. All...
The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic general health examination including diagnostic imaging performed. NOD2 mutational hot spot located exon 4 Sanger sequenced all probands. Two also underwent autoinflammatory disorder gene panel screening, one subject, exome sequencing syndrome presenting as uveitis, skin rush or arthritis diagnosed four cases families....
The aim of the study was to describe phenotype and molecular genetic causes X-linked megalocornea (MGC1). We recruited four British, one New Zealand, Vietnamese Czech families.All probands three female carriers underwent ocular examination Sanger sequencing CHRDL1 gene. Two also had magnetic resonance imaging (MRI) brain.We identified nine pathogenic or likely variant uncertain significance in CHRDL1, which eight are novel. Three findings that have not previously been associated with MGC1,...
Mutations in the myocilin gene (MYOC) cause trabecular dysfunction and thus are involved pathogenesis of primary open-angle glaucoma (POAG). The aim this study was to characterize describe clinical findings two Czech families with POAG due pathogenic variants MYOC gene.Members affected by underwent complete ophthalmological examination. In proband from first family, a direct sequencing three most frequent mutations performed, second an exome performed. Other family members targeted tests...
ABSTRACT Four members of a three-generation family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers the n.37C>T in MIR204 . The identification this previously reported pathogenic variant confirms existence distinct clinical entity caused by sequence change was variably associated iris coloboma, congenital glaucoma, and premature cataracts extending phenotypic range condition. In silico analysis revealed 713 novel targets. Additionally, affected albinism...
Abstract Purpose To characterise the phenotype and genotype of concurrent keratoconus Fuchs endothelial corneal dystrophy (KC + FECD). Methods We recruited 20 patients with KC FECD for a retrospective observational case series from United Kingdom Czech Republic. compared eight parameters shape (Pentacam, Oculus) two groups age‐matched controls who had either isolated (KC) or FECD. genotyped probands an intronic triplet TCF4 repeat expansion (CTG18.1) ZEB1 variant c.1920G >T p.(Gln640His)....
We report the phenotype of a 15-year-old female patient with anterior segment dysgenesis (ASD) caused by novel heterozygous loss-of-function FOXC1 variant. The proband underwent an ophthalmic examination as well molecular genetic investigation comprising exome sequencing, single nucleotide polymorphism array to access copy number and Sanger sequencing exclude non-coding causal variants. There was bilateral mild iris hypoplasia pupil deformation iridocorneal adhesions. In addition these...
Abstract Purpose: To identify disease‐causing mutation in one proband of Czech origin with anterior segment dysgenesis (ASD) and to describe the associated phenotype. Methods: After complex ophthalmic examination 15‐year‐old female at Department Ophthalmology, 1st Faculty Medicine, Charles University General Hospital Prague, DNA extraction from blood was performed. Pathogenic variants genes ASD were searched using exome sequencing. Confirmation presence causal variant segregation within...