A5000903499- Corneal Surgery and Treatments
- Corneal surgery and disorders
- Glaucoma and retinal disorders
- Retinal Development and Disorders
- Proteoglycans and glycosaminoglycans research
- Cell Adhesion Molecules Research
- Retinal Diseases and Treatments
- Biomedical Research and Pathophysiology
- Genetic and Kidney Cyst Diseases
- RNA regulation and disease
- Cellular transport and secretion
- Ocular Surface and Contact Lens
- Renal and related cancers
- Retinal and Macular Surgery
- Heme Oxygenase-1 and Carbon Monoxide
- Connective tissue disorders research
- Connexins and lens biology
- Retinal and Optic Conditions
- Protein Tyrosine Phosphatases
- Ocular Disorders and Treatments
- Congenital limb and hand anomalies
- Veterinary Equine Medical Research
- Forensic Toxicology and Drug Analysis
- Fungal Plant Pathogen Control
- Mitochondrial Function and Pathology
Haukeland University Hospital
2016-2025
University of Bergen
2008-2025
Centre hospitalier national d'ophtalmologie des Quinze-Vingts
2015
Institut de la Vision
2015
Johannes Gutenberg University Mainz
2015
Saarland University
2015
Aarhus University Hospital
2015
Massachusetts Eye and Ear Infirmary
2015
Smith-Kettlewell Eye Research Institute
2015
Tufts University
2015
Purpose: To update the 2008 International Classification of Corneal Dystrophies (IC3D) incorporating new clinical, histopathologic, and genetic information. Methods: The IC3D reviewed worldwide peer-reviewed articles for information on corneal dystrophies published between 2014. Using this information, dystrophy templates anatomic classification were updated. New confocal photographs added. Results: On basis revisiting cellular origin dystrophy, a modified is proposed consisting (1)...
Purpose: The International Committee for the Classification of Corneal Dystrophies (IC3D) was created in 2005 to develop a new classification system integrating current information on phenotype, histopathology, and genetic analysis. This update is third edition IC3D nomenclature. Methods: Peer-reviewed publications from 2014 2023 were evaluated. used anatomic each 22 standardized templates including level evidence being corneal dystrophy [from category 1 (most evidence) 4 (least evidence)]....
purpose. To describe the clinical and pathologic characteristics of a family with congenital stromal dystrophy cornea to identify genetic basis for this disorder. methods. All members in three generations underwent ophthalmic examination. Stored corneal buttons were examined by transmission electron microscopy. Molecular studies, including genome-wide scan microsatellite markers, linkage analysis, DNA sequencing, performed. results. The was inherited an autosomal dominant pattern seen as...
Abstract Background Correct diagnosis is pivotal to understand and treat neurological disease. Herein, we report the diagnostic work-up utilizing exome sequencing characterization of clinical features brain MRI in two siblings with a complex, adult-onset phenotype; including peripheral neuropathy, epilepsy, relapsing encephalopathy, bilateral thalamic lesions, type 2 diabetes mellitus, cataract, pigmentary retinopathy tremor. Methods We applied genealogical investigations, homozygosity...
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic that characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs symptoms. It caused variants in either of two genes ( CREBBP , EP300 ) which encode for the proteins CBP p300, both have a function transcription regulation histone acetylation. As group international experts national support groups dedicated to syndrome, we realised marked heterogeneity...
Aims/Purpose: This study evaluates the efficacy of topical dasatinib and axitinib for treating experimentally induced corneal neovascularization (CNV) in a mouse alkali burn model, comparing these treatments to established therapies like dexamethasone bevacizumab. The aims determine which treatment provides superior inhibiting CNV this model. Methods: Thirty‐six C57BL/6;129Sv mice underwent standardized induce both eyes using paper disc soaked 1M NaOH. were randomly assigned one six groups:...
Abstract Aberrant cholesterol metabolism causes neurological disease and neurodegeneration, mitochondria have been linked to perturbed homeostasis via the study of pathological mutations in ATAD3 gene cluster. However, whether changes were compensatory or contributory disorder was unclear, effects on cell membranes wider also unknown. Using patient-derived cells, we show that perturbation is a conserved feature variants accompanied by an expanded lysosome population containing membrane...
Aims/Purpose: This study evaluates the efficacy of topical dasatinib and axitinib for treating experimentally induced corneal neovascularization (CNV) in a mouse alkali burn model, comparing these treatments to established therapies like dexamethasone bevacizumab. The aims determine which treatment provides superior inhibiting CNV this model. Methods: Thirty‐six C57BL/6; 129Sv mice underwent standardized induce both eyes using paper disc soaked 1M NaOH. were randomly assigned one six groups:...
Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, functional effect of intronic c.5461-10T>C is unknown. The purpose this study was to investigate molecular variant.Fibroblast samples from carrying were analysed by isolating total RNA, followed real-time polymerase chain reaction (RT-PCR) using specific primers spanning variant. For detection protein, fibroblast lysed and SDS-PAGE immunoblotting a monoclonal antibody.The causes splicing defect...
Purpose.: Congenital stromal corneal dystrophy (CSCD) is characterized by opacities that morphologically are seen as interlamellar layers of amorphous substance with small filaments, the nature which has hitherto been unknown. CSCD associated truncating mutations in decorin gene (DCN). To understand molecular basis for we analyzed expression this disease, both at morphologic and level. Methods.: Corneal specimens were examined after contrast enhancement cuprolinic blue immunoelectron...
The role of Decorin in organising the extracellular matrix was examined normal human corneas and from patients with Congenital Stromal Corneal Dystrophy (CSCD). In CSCD, corneal clouding occurs due to a truncating mutation (c.967delT) decorin (DCN) gene. Normal protein truncated one were reconstructed silico using homology modelling techniques explore structural changes diseased protein. CSCD specimens also 3-D electron tomography Small Angle X-ray diffraction (SAXS), image...
Purpose.: Congenital stromal corneal dystrophy (CSCD) is an autosomal dominant condition with clouding of the cornea due to opacities. It caused by mutations in decorin gene (DCN) leading expression a truncated form decorin. In attempt replicate this mice, knock-in mouse strain, 952delT Dcn, was created. Methods.: Mice were constructed targeted mutation. Sequencing genomic DNA confirmed correct genotype. Mouse and human corneas, including corneas from patients CSCD, primary keratocyte...
To confirm the predictive value of photopic cone b-wave implicit time in 30 Hz flicker electroretinography (ERG) for ocular neovascularization (NV) central retinal vein occlusion (CRVO), and to compare ERG results presumed healthy fellow eye.A retrospective analysis 71 consecutive patients with CRVO. After examination, all were followed at least 12 months, or until NV was found. Three died during study period; none other lost follow-up.Twenty-four (33.8%) developed follow-up. The mean 32.6...
Pathogenic variations in the ABCA4 gene are a leading cause of vision loss patients with inherited retinal diseases. ABCA4-retinal dystrophies clinically heterogeneous, presenting mild to severe degeneration retina. The purpose this study was and genetically characterize Norway describe phenotype-genotype associations.ABCA4 variants were detected 111 disease undergoing diagnostic genetic testing over period 12 years. In where only single variant found, whole-gene sequencing performed...
BAKGRUNN Grunnet sviktende tilmelding og dårlig datasikkerhet ble Blindekartoteket nedlagt i 1995. Etter den tid har det ikke eksistert noen synsregistrering Norge. Alle de andre nordiske landene registre for barn unge med nedsatt syn. Hensikten aktuelle studien var å kartlegge synsvansker årsaker til synsnedsettelse hos samt vurdere behovet et øyemedisinsk register. MATERIALE OG METODE Via fylkesvise synspedagogiske sentrene perioden 2005 – 10 samlet inn data om under 20 år syn (n = 628)....
Hintergrund: Die in jüngster Zeit verfügbaren genetischen Analysen haben die Mängel der herkömmlichen phänotypischen Methode zur Klassifikation von Hornhautdystrophien (HD) aufgezeigt. Anomalien verschiedenen Genen können einen einzigen Phänotyp verursachen, wogegen verschiedene Defekte einem Gen Phänotypen bedingen können. Einige als korneale Dystrophien bezeichnete Störungen scheinen keinen Hintergrund zu haben. Absicht: Ziel dieser Studie war es, ein neues System Klassifizierung...