A5020419239- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Ocular Disorders and Treatments
- Retinal and Optic Conditions
- Photoreceptor and optogenetics research
- Advanced biosensing and bioanalysis techniques
- RNA regulation and disease
- melanin and skin pigmentation
- Cellular transport and secretion
- Retinal and Macular Surgery
- Retinal Imaging and Analysis
- Menstrual Health and Disorders
- Connexins and lens biology
- Retinopathy of Prematurity Studies
- CRISPR and Genetic Engineering
- Ocular Diseases and Behçet’s Syndrome
- Maternal Mental Health During Pregnancy and Postpartum
- Retinoids in leukemia and cellular processes
- Ophthalmology and Visual Impairment Studies
- Ocular Oncology and Treatments
- Genetic and Kidney Cyst Diseases
- Child and Adolescent Psychosocial and Emotional Development
- Genetics and Neurodevelopmental Disorders
- Biochemical effects in animals
Rotterdam Eye Hospital
2016-2025
Combined Ophthalmic Research Rotterdam
1992-2023
University of Wisconsin–Madison
2023
Ocular Immunology and Uveitis Foundation
2002-2021
Clinical Research Consortium
2020
Amsterdam UMC Location University of Amsterdam
2016
Landelijke Stichting voor Blinden en Slechtzienden
2016
Netherlands Institute for Neuroscience
2016
McMaster University
1999-2008
St. Joseph’s Healthcare Hamilton
1999-2006
Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease that severely impairs sight children. Gene therapy can result modest improvements night vision, but knowledge of its efficacy humans is limited.
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach the molecular of RP. All inherited retinal disease (n = 111) were captured simultaneously analyzed using NGS in 100 RP without diagnosis. A systematic data analysis pipeline was validated prioritize predict pathogenicity all variants identified each...
PurposeUsing exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored Stargardt disease (STGD1) as a model to identify missing heritability.MethodsSequencing of ABCA4 was performed 8 STGD1 cases one variant and p.Asn1868Ile trans, 25 variant, 3 no variant. The effect intronic analyzed using vitro splice assays HEK293T cells patient-derived fibroblasts. Antisense oligonucleotides were used correct defects.ResultsIn 24 probands...
Purpose.: Achromatopsia (ACHM) is a congenital autosomal recessive cone disorder with presumed stationary nature and only few causative genes. Animal studies suggest that ACHM may be good candidate for corrective gene therapy. Future implementation of this therapy in humans requires the presence viable cells retina. In study was determined, as function age. Methods.: The appearance thickness all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT) 40...
Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are noncanonical splice site (NCSS) variants. In case gene interest not expressed available somatic cells, small genomic fragments carrying potential disease-associated tested for abnormalities using vitro assays. We recently discovered that when minigenes lacking proper context, results do correlate with defects observed patient cells. therefore devised novel strategy bacterial artificial chromosome was...
Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with group diseases called ciliopathies. These genetic disorders can affect variety organs including retina. Using whole exome sequencing three families, we identified mutations Intraflagellar Transport 172 Homolog...
Inherited eye disorders have a large clinical and genetic heterogeneity, which makes diagnosis cumbersome. An exome-sequencing approach was developed in data analysis divided into two steps: the vision gene panel exome analysis. In analysis, variants genes known to cause inherited were assessed for pathogenicity. If no causative detected when patient consented, entire analyzed. A total of 266 Dutch patients with different types disorders, including retinal dystrophies, cataract,...
Abstract Purpose To analyse intraocular cytokine levels and prevalence of antiretinal antibodies ( ARA s) in patients with retinitis pigmentosa RP ), age‐related macular degeneration AMD glaucoma cataract, correlate the results to clinical manifestations. Methods We collected fluid samples from n = 25), 12), 28) cataract 22), serum paired fluids N 7) 10). Interleukin IL )‐1 β , ‐1ra, ‐2, ‐6, ‐6r α ‐7, ‐8, ‐10, ‐17A, ‐23, thymus‐ activation‐regulated chemokine TARC monocyte chemoattractant...
The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss vision and blindness, was investigated in families lacking a molecular diagnosis. A refined locus for adRP on Chr17q22 (RP17) delineated through genotyping genome sequencing, leading the identification structural variants (SVs) that segregate with disease. Eight different complex SVs were characterized 22 adRP-affected >300 affected individuals. All RP17 had breakpoints within genomic region spanning YPEL2...
Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ∼70% of LCA patients. The aim the present study was to identify new genetic causes LCA.Homozygosity mapping in >150 patients worldwide origin performed high-density SNP microarrays disease-causing genes.In three isolated patients, authors large homozygous regions on chromosome 3 encompassing IQCB1 gene, which has been associated Senior-Loken syndrome (SLSN), characterized by...