A5059715038- Retinal Development and Disorders
- Glaucoma and retinal disorders
- Multiple Sclerosis Research Studies
- Retinal Diseases and Treatments
- Retinal and Optic Conditions
- Systemic Lupus Erythematosus Research
- Retinopathy of Prematurity Studies
- Corneal surgery and disorders
- Ophthalmology and Visual Impairment Studies
- Ocular Diseases and Behçet’s Syndrome
- Intraocular Surgery and Lenses
- Drug-Induced Ocular Toxicity
- Ocular Disorders and Treatments
- Neonatal and fetal brain pathology
- CRISPR and Genetic Engineering
- Biomedical Research and Pathophysiology
- Retinal and Macular Surgery
- RNA regulation and disease
- Ophthalmology and Eye Disorders
- Peripheral Neuropathies and Disorders
- Connexins and lens biology
- Photoreceptor and optogenetics research
- Neonatal Health and Biochemistry
- Traumatic Ocular and Foreign Body Injuries
- Retinoids in leukemia and cellular processes
University of Zurich
2015-2024
University Hospital of Zurich
2015-2024
École Polytechnique Fédérale de Lausanne
2020
Department of Medical Sciences
2020
Institute of Neuroimmunology of the Slovak Academy of Sciences
2018
Hôpital Universitaire Dupuytren
2015
Abstract Background Icare PRO (ICP) is a new Rebound tonometer that able to measure intraocular pressure (IOP) in both sitting and reclining positions. In this study, the gold standard Goldmann (GAT) was compared ICP Tono-Pen AVIA (TPA). Hypothesis repeatability of GAT superior TPA. Methods 36 eyes healthy caucasian individuals, 13 male 26 females, 17 right 19 left have been included prospective, randomized, cross-sectional study. The study conducted at single site (Dept. Ophthalmology,...
Purpose: To identify the genetic cause of autosomal recessive familial foveal retinoschisis (FFR). Methods: A female sibship with FFR was identified (Family-A; 17 and 16 years, respectively); panel based sequencing (132 genes) comparative genome hybridization (142 were performed. Whole-exome (WES) performed on both siblings using Illumina-HiSeq-2500 platform. sporadic male (Family-B; 35 years) underwent WES Illumina NextSeq500. All three affected subjects detailed ophthalmologic evaluation...
Purpose: Recent evidence suggests structural changes distal to the inner retina in multiple sclerosis (MS) patients. The functional correlates of these proposed abnormalities remain unclear. We investigated outer retinal function and structure MS patients, quantified what extent influenced Methods: Outer was assessed using full-field multifocal electroretinogram (ERG/MF-ERG), whereas spectral-domain optical coherence tomography (OCT). Results were compared with preexisting normative data....
Cataract surgery combined with excimer laser trabeculotomy (phaco-ELT) can reduce intraocular pressure (IOP). The aim of this study was to evaluate the effect phaco-ELT on IOP in patients as a function preoperative IOP.Patients open-angle glacuoma or ocular hypertension who received between 01/2008 and 10/2009 were included. Patients assigned based either group (≤21 mmHg) control (>21 IRB-approved, prospective, consecutive case series. Visual Acuity, IOP, number anti-glaucoma drugs (AGD)...
To investigate and quantify the impact of intracranial lesions at different locations within visual pathway on ganglion cell layer-inner plexiform layer (GCL-IPL) complex retinal nerve fiber (RNFL).Patients with affecting optic chiasm (Group I) or tract and/or lateral geniculate nucleus II) were included. All patients received kinetic field assessment underwent spectral domain optical coherence tomography. Peripapillary papillomacular bundle (PMB) RNFL macular GCL-IPL thickness in 4...
Abstract Background Infants born prematurely are at risk of developing retinopathy prematurity, which is associated with abnormalities in retinal function as measured using electroretinography. The aim this study was to record non-invasive flicker electroretinograms (ERGs) preterm infants and compare moderate very or extremely infants. Methods In non-randomized, cross-sectional study, 40 (gestational age (GA) 34 0/7 36 6/7 weeks, Group A) (GA ≤ 31 B) were recruited for ERG recording through...
Background: Recurrent optic neuritis (rON) associated with myelin oligodendrocyte glycoprotein (MOG)-specific antibodies has been initially reported to show a better clinical outcome than aquaporin-4 (AQP4)-seropositive ON in neuromyelitis optica spectrum disorder (NMOSD). Here, we characterize and neuroimaging findings severe cases of MOG antibody–positive AQP4 antibody–negative bilateral rON. Methods: Three male adults rON (ages 18, 44, 63 years) were evaluated optical coherence tomography...
Abstract Purpose To (i) describe a series of patients with isolated or syndromic nanophthalmos the underlying genetic causes, including novel pathogenic variants and their functional characterization (ii) to study association retinal dystrophy in MFRP variants, based on detailed literature review genotype–phenotype correlations. Methods Patients available family members received comprehensive ophthalmological examination. Genetic analysis was whole‐exome sequencing variant calling core genes...
The purpose of this study was to develop a flexible, cost-efficient, next-generation sequencing (NGS) protocol for genetic testing. Long-range polymerase chain reaction (PCR) amplicons up 20 kb in size were designed amplify entire genomic regions panel (n = 35) inherited retinal disease (IRD)-associated loci. Amplicons pooled and sequenced by NGS. analysis applied 227 probands diagnosed with IRD: (A) 108 previously molecularly diagnosed, (B) 94 without previous testing, (C) 25 undiagnosed...
Abstract Recessive mutations in the CTNS gene encoding lysosomal transporter cystinosin cause cystinosis, a storage disease leading to kidney failure and multisystem manifestations. A Ctns knockout mouse model recapitulates features of but delayed onset manifestations, phenotype variability strain effects limit its use for mechanistic drug development studies. To provide better we generated rat using CRISPR/Cas9 technology. The Ctns−/− rats display progressive cystine accumulation crystal...
To determine and to analyze the outcome of pediatric cataract surgery. A retrospective chart review individuals aged up 10 years who underwent surgery between January 1, 2004, December 31, 2014, at UniversityHospital Zurich, Switzerland. 63 children (94 affected eyes) with bilateral (68/94) or unilateral (26/94) were identified. Surgery was performed a median age 1.5 months (IQR: 1.3-2.6 months) for aphakic group (45/94) 50.7 38.0-78.4 IOL (49/94). At last follow-up visit (median 31.1...
Optic nerve hypoplasia (ONH) is a congenital optic abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being rare disease, ONH the most common disk anomaly in ophthalmological practice. So far, mutations several genes have been identified as causative; however, many cases remain without molecular explanation. The early transcription factor atonal basic-helix-loop-helix (bHLH) 7 (ATOH7) expressed progenitor and has crucial role RGC development. Previous studies...
To study the long-term effects of perinatal high-dose recombinant human erythropoietin (rhEPO) on macular structural and vascular development in preterm children.
PURPOSE.To define the phenotype of C2orf71 associated retinopathy and to present novel mutations in this gene. METHODS.A retrospective multicenter study patients with identified was performed.Ocular function (visual acuity, visual fields, electroretinogram [ERG] responses); retinal morphology (fundus, optical coherence tomography); underlying were analyzed. RESULTS.Thirteen from 11 families, who aged 7 63 years (mean: 32.1 years) at their first examination presumed compound heterozygous...
This longitudinal study aimed to assess changes in retinal structure and visual function following a first-ever episode of acute optic neuritis (ON).
Hyperreflective foci are poorly understood transient elements seen on optical coherence tomography (OCT) of the retina in both healthy and diseased eyes. Systematic studies may benefit from development automated tools that can map track such foci. The outer nuclear layer (ONL) is an attractive which to study hyperreflective as it has no fixed In this study, we intended evaluate whether image analysis identify, quantify visualize ONL retina.This longitudinal exploratory investigated 14 eyes...
Hydroxychloroquine (HCQ) can cause irreversible damage to the retina, especially when taken over longer periods. The American Academy of Ophthalmology recommends a regimen for dosing, screening, and monitoring patients treated with HCQ. We present an unusual case rapid development severe HCQ-associated retinopathy already after 2 years commencing HCQ treatment.
Purpose: To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations the SNRNP200 gene. Methods: In a retrospective study, of two unrelated families were identified: family A, five aged 36 to 77 years; B, one patient 9 years his asymptomatic parents sister. All received comprehensive eye examination detailed retinal functional morphologic assessment. Genetic testing was performed by whole exome sequencing (WES) index from each family. Genes...
To investigate feasibility, reliability and discriminative validity of pseudoisochromatic (PIC) colour vision tests, the Mollon-Reffin minimalist (MRM) test Cambridge Colour Test (CCT) among children (3-10 years) with reduced visual acuity.Thirty-three patients acuity 38 healthy control subjects age-related normal were recruited for this prospective study. Visual in was due to amblyopia, binocular maculopathy, or optic neuropathy. Tests performed a single 1-hr session.All but two...
Abstract Purpose To develop and validate a flicker electroretinogram (ERG) protocol in term-born neonates as potential tool for assessing preterm infants at risk of developing retinopathy prematurity. Methods A custom ERG was developed use with the hand-held RETeval® electrophysiology device. Feasibility measuring through closed eyelids without mydriasis established pilot study enabling optimisation test protocol. Following this, healthy (gestational age 37–42 weeks) were recruited...