A5032702293- Ocular Diseases and Behçet’s Syndrome
- Retinal Diseases and Treatments
- Retinal and Optic Conditions
- Dermatological and Skeletal Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Systemic Lupus Erythematosus Research
- Retinal Development and Disorders
- Skin and Cellular Biology Research
- Glaucoma and retinal disorders
- Autoimmune Bullous Skin Diseases
- Ocular Oncology and Treatments
- interferon and immune responses
- Vector-borne infectious diseases
- Inflammasome and immune disorders
- Optical Imaging and Spectroscopy Techniques
- Ocular Disorders and Treatments
- Retinal and Macular Surgery
- Protein Tyrosine Phosphatases
- Photodynamic Therapy Research Studies
- CNS Lymphoma Diagnosis and Treatment
- Toxoplasma gondii Research Studies
- Ocular and Laser Science Research
- Pregnancy and preeclampsia studies
- Extracellular vesicles in disease
- Vascular Tumors and Angiosarcomas
University Medical Center Utrecht
2016-2025
Utrecht University
2002-2024
Vitreous Retina Macula Consultants of New York
2024
Ophthalmology Associates (United States)
2020
The diagnostic workup of patients suspected having vitreoretinal lymphoma (VRL) is primarily based on vitreous fluid analysis, including the recently emerging myeloid differentiation primary response gene 88 (MYD88) mutation analysis. Aqueous humor paracentesis a relatively less invasive and safer procedure than taking specimens, aqueous humor-based MYD88 analysis would provide an additional liquid biopsy tool to diagnose monitor with VRL.To investigate whether detection L265P by highly...
PurposeTo describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).DesignRetrospective cohort study.ParticipantsThree hundred forty XLRS from 178 presumably unrelated families.MethodsThis multicenter, retrospective study reviewed medical records for history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence).Main Outcome MeasuresAge at...
An ongoing global shortage of verteporfin (Visudyne
To assess the age-specific proportion of visual impairment in patients with pseudoxanthoma elasticum (PXE) and to compare this foveal abnormality similar data late age-related macular degeneration patients.Cross-sectional 195 PXE were reviewed, including best-corrected acuity imaging. The World Health Organisation criteria used categorize bilateral impairment. These results compared 131 from Rotterdam study.Overall, 50 (26.0%) visually impaired, 21 (11%) legal blindness. Visual functioning...
Purpose: To investigate the development of macular edema (ME) in relation to duration uveitis and visual outcome associated with juvenile idiopathic arthritis (JIA).Methods: Sixty-one patients JIA-uveitis (116 eyes) were investigated by Cirrus OCT for thickness. The between thickness time interval since onset best corrected acuity (BCVA) was analyzed linear mixed effect models.Results: Duration follow-up showed significant positive central a BCVA, but not disease activity. Thirteen developed...
Background and aimsPseudoxanthoma elasticum (PXE) is caused by variants in the ABCC6 gene. It results calcification skin, peripheral arteries eyes, but has considerable phenotypic variability. We investigated association between genotype clinical phenotypes these different organs.MethodsABCC6 sequencing was performed 289 PXE patients. Genotypes were grouped as two truncating, mixed, or non-truncating variants. Arterial mass quantified on whole body, low dose CT scans; arterial disease...
Pseudoxanthoma elasticum (PXE), a monogenic disorder resulting in calcification affecting the skin, eyes and peripheral arteries, is caused by mutations ABCC6 gene, associated with low plasma inorganic pyrophosphate (PPi). It unknown how genotype affects PPi.We studied association of (192 patients biallelic pathogenic mutations) PPi levels, its severity arterial ophthalmological phenotypes. variants were classified as truncating or non-truncating, three groups 192 formed: those on both...
PURPOSE.The cause of noninfectious uveitis (NIU) is poorly understood but considered to be mediated by a complex interplay between genetic, environmental, and-relatively unexplored-epigenetic factors.MicroRNAs (miRNAs) are noncoding small RNAs that important epigenetic regulators implicated in pathologic signaling.Therefore, we mapped the circulating miRNA-ome NIU patients and studied miRNA perturbations within broader context immune system.METHODS.We designed strategy robustly identify...
PurposeTo investigate whether the extent of Bruch's membrane calcification is associated with choroidal neovascularization (CNV) and macular atrophy in patients pseudoxanthoma elasticum (PXE) by using angioid streaks as a surrogate marker for degree calcification.DesignRetrospective cross-sectional study.MethodsWe investigated 301 PXE (median age, 52 years; range, 9-79 years) tertiary referral center. For both eyes, we graded streaks, that is, their distance from optic disc, into 5 groups....
Single-nucleotide polymorphisms (SNPs) near the ERAP2 gene are associated with various autoimmune conditions, as well protection against lethal infections. Due to high linkage disequilibrium, numerous trait-associated SNPs correlated expression; however, their functional mechanisms remain unidentified. We show by reciprocal allelic replacement that expression is directly controlled splice region variant rs2248374. However, disease-associated variants in downstream LNPEP promoter...
To evaluate the efficacy of corticosteroid-sparing immunomodulatory therapy (IMT) in patients with recurrent and/or sight-threatening central multifocal choroiditis (MFC).This was a retrospective cohort study tertiary uveitis centre including all MFC who have been treated IMT for at least 12 months. Clinical data and imaging results were collected regarding period prior to start 3, 6, - where available 24 months after IMT. Main outcome measure number annual recurrences or without active...
Retinal diseases generally are vision-threatening conditions that warrant appropriate clinical decision-making which currently solely dependents upon extensive screening by specialized ophthalmologists. In the era where molecular assessment has improved dramatically, we aimed at identification of biomarkers in 175 ocular fluids to classify four archetypical affecting retina (age-related macular degeneration, idiopathic non-infectious uveitis, primary vitreoretinal lymphoma, and...
To evaluate the effect of tumor necrosis factor (TNF) inhibitor therapy on ocular relapses in patients with Susac syndrome.Multicenter retrospective cohort study diagnosed syndrome according to classical clinical criteria. We evaluated disease activity before and after introduction anti-TNF its value as a steroid-sparing agent.Five were included. All initially treated combination corticosteroids immunosuppressive drugs. Infliximab was started three patients, adalimumab two patients. Patients...
Purpose: Progressive calcification of Bruch's membrane (BM) causes considerable visual morbidity in patients with pseudoxanthoma elasticum (PXE). Since is hyperreflective on optical coherence tomography (OCT), our aim was to measure BM OCT imaging. Methods: Case-control study 45 PXE under 40 years (range, 11–39) and 25 controls 14–39). Spectralis HRA-OCT imaging consisted seven macular B-scans 250-µm spacing. Retinal segmentation performed the IOWA Reference Algorithms. MATLAB used extract...
Introduction: The aim of this study was to describe the course disease in patients with idiopathic multifocal choroiditis (MFC) and punctate inner choroidopathy (PIC) identify risk factors associated an increased relapse rate activity. Methods: In prospective observational cohort study, demographical clinical data were collected concerning relapses activity, conclusions multimodal imaging results, treatment, complications, self-reported quality life. Disease activity defined as new...