Linda Visser

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Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes known to date. Here, we developed a comprehensive next-generation sequencing (NGS) approach for the clinical molecular diagnostics of RP. All known inherited retinal disease genes (n = 111) were captured(More)
OBJECTIVE To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). DESIGN Retrospective case series. PARTICIPANTS Ten patients with ARB from 7 different families. METHODS All patients underwent a complete ophthalmic examination, including dilated fundus examination, fundus photography, and(More)
PURPOSE To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). DESIGN Case series/observational study. PARTICIPANTS We included 13 patients affected by RPA or FAP. METHODS Thirteen patients were collected from 8 families with a retinal dystrophy(More)
During online hemodiafiltration, patients are directly infused with sterile substitution solutions to maintain fluid balance. Adequate water treatment and a well-organized quality control process are essential to provide non-pyrogenic fluids with consistent optimal quality. We sought to assess water quality, the water treatment system, and the methods for(More)
X-linked lymphoproliferative disease (XLP) is a rare immunodeficiency caused by mutations in the signaling lymphocyte activating molecule-associated protein/SH2D1A gene and characterized by a dysregulated immune response to Epstein-Barr virus and other pathogens. The clinical presentation is heterogeneous and includes fulminant infectious mononucleosis,(More)
We evaluated the influence of the use of the Newcastle disease virus (NDV)-strains Ulster and La Sota in the haemagglutination inhibition (HI) assay for the measurement of antibody titres after NDV vaccination. The use of the homologous La Sota antigen in the HI assay after Clone30 and La Sota vaccination of SPF-chickens, resulted in significantly higher(More)
Cytomegalovirus retinitis (CMVR) is a major opportunistic complication of the acquired immune deficiency syndrome ( A I D S ) . In the developed world, prior to the availability of highly active anti-retroviral therapy (HAART), it was estimated that about 30% of patients with AIDS would develop CMVR during their lifetime. However, since the introduction of(More)
Three healthy boys, 3.5, 5 and 1.5 years of age, were admitted to hospital with a severe bacterial skin infection, cerebellar ataxia, and pneumonia, respectively, one week after the onset of varicella. They recovered completely after treatment. Studies in Europe report complications from varicella in 2.5% of healthy children. Most of these are neurological(More)
Method: Thirty-three clusters of 50 subjects ≥ 50 years old were randomly selected. Consenting subjects underwent enumeration to establish a demographic profile and thereafter a clinical examination. Visual acuity (VA) was measured with a Tumbling ‘E’ chart; participants having a VA < 6/18 were retested with a pinhole. If no improvement in VA occurred,(More)
AIM Sub-Saharan Africa has a population of 1 billion, with one ophthalmologist per million people. Basic ophthalmic support services are virtually absent for all but a few urban populations. Minimally invasive laser treatment may help. This study reports our initial experience using selective laser trabeculoplasty (SLT) in a mixed-racial population of adult(More)
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