Search results for "Ophthalmology"

Next-generation sequencing confirms the implication ofSLC24A1in autosomal-recessive congenital stationary night blindness

2016

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert–Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SL…

Hyperosmolarity and Benzalkonium Chloride Differently Stimulate Inflammatory Markers in Conjunctiva-Derived Epithelial Cells in vitro

2017

Tear hyperosmolarity is known to cause ocular surface inflammation in dry eye syndrome. Benzalkonium chloride (BAK), an eyedrop preservative, is known to induce dry eye in long-term-treated patients. Analyzing the modulation of the proinflammatory potential of hyperosmolarity in the presence of BAK on the conjunctiva could give new insights into the effect of this preservative on the disease. In a hyperosmolar model on a conjunctiva-derived cell line, and in the presence of BAK, we evaluated key inflammatory markers [CCL2, IL-8, IL-6, macrophage migration inhibitory factor (MIF) and intercellular adhesion molecule (ICAM)-1] as well as the osmoprotectant element nuclear factor of activated T…

Analysis of normal human retinal vascular network architecture using multifractal geometry

2017

AIM To apply the multifractal analysis method as a quantitative approach to a comprehensive description of the microvascular network architecture of the normal human retina. METHODS Fifty volunteers were enrolled in this study in the Ophthalmological Clinic of Cluj-Napoca, Romania, between January 2012 and January 2014. A set of 100 segmented and skeletonised human retinal images, corresponding to normal states of the retina were studied. An automatic unsupervised method for retinal vessel segmentation was applied before multifractal analysis. The multifractal analysis of digital retinal images was made with computer algorithms, applying the standard box-counting method. Statistical analyse…

Non-primate lentiviral vectors and their applications in gene therapy for ocular disorders

2018

Lentiviruses have a number of molecular features in common, starting with the ability to integrate their genetic material into the genome of non-dividing infected cells. A peculiar property of non-primate lentiviruses consists in their incapability to infect and induce diseases in humans, thus providing the main rationale for deriving biologically safe lentiviral vectors for gene therapy applications. In this review, we first give an overview of non-primate lentiviruses, highlighting their common and distinctive molecular characteristics together with key concepts in the molecular biology of lentiviruses. We next examine the bioengineering strategies leading to the conversion of lentiviruse…

2016

AbstractMyopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7–15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed furthe…

Autoimmune aspects in glaucoma

2016

The pathogenesis of glaucoma, a common neurodegenerative disease, involves an immunologic component. Studies demonstrate changes of autoantibody concentrations against retinal and optic nerve head antigens in glaucoma patients. Furthermore we found antibody deposits in human glaucomatous retinae in a pro-inflammatory environment. Clinical studies showed up regulated, but also significantly down-regulated autoantibody levels. These antibodies belong to the natural autoimmunity. The upregulation of autoantibodies can be associated with fatal conditions, but several studies demonstrate that natural autoantibodies entail also neuroprotective characteristics and influence the protein expression …

Expansion und Transplantation limbaler Stammzellen zur Regeneration der kornealen Oberfläche

2017

ZusammenfassungDie Regeneration des Hornhautepithels wird beim Menschen über das Stammzellreservoir des Limbus reguliert. Bei ausgedehnter Zerstörung der Limbusregion im Rahmen von Entzündungen, Verbrennungen oder Verätzungen kann sich eine limbale Stammzellinsuffizienz ausbilden, bei der es zu einer Vaskularisation und Eintrübung der Hornhaut mit funktioneller Beeinträchtigung kommen kann. Es stehen verschiedene Verfahren der autologen und allogenen Transplantation limbaler Stammzellen zur Verfügung. So können ganze Limbusabschnitte und kleine Limbusbiopsate direkt transplantiert oder aus kleinen Limbusbiopsaten stammende Zellen zunächst ex vivo auf Trägermembranen vermehrt und anschließen…

Rezidivierende Hornhauterosion bei epithelialen Hornhautdystrophien

2018

ZusammenfassungDas Hornhautepithel stellt die wesentliche abbildende Struktur des optischen Systems dar. Rezidivierende Hornhauterosionen können durch Entzündung, Trauma, Degenerationen und Dystrophien verursacht werden. Die epitheliale Basalmembrandystrophie (EBMD), die epitheliale rezidivierende Erosionsdystrophie (ERED) nach Francheschetti und die Meesmannʼsche epitheliale Hornhautdystrophie (MECD) führen jenseits unterschiedlicher Symptome und klinischer Zeichen – bedingt durch verschiedene Pathomechanismen – mehr oder weniger häufig zu einer Erosio corneae. Diese treten bei der EBMD fakultativ auf, wobei jedoch das Krankheitsbild der EBMD sehr versteckt sein kann. Die histologische Urs…

Das Usher-Syndrom, eine Ziliopathie des Menschen

2018

ZusammenfassungDas humane Usher-Syndrom (USH) ist eine seltene, komplexe genetische Erkrankung, die sich in kombinierter Taubblindheit manifestiert. Aufgrund der Ausprägung des Krankheitsbilds werden 3 klinische Typen (USH1 – 3) unterschieden. Für eine korrekte Diagnose sind zusätzlich zu den auditorischen Tests im Zuge des Neugeborenenscreens auch frühe ophthalmologische Untersuchungen und eine molekulargenetische Abklärung notwendig. Die bislang 10 bekannten USH-Gene codieren für heterogene Proteine, die in Proteinnetzwerken miteinander in Funktionseinheiten kooperieren. Im Auge und im Ohr werden USH-Proteine vor allem in den mechanosensitiven Haarsinneszellen und den Stäbchen- und Zapfen…

Course of serum autoantibodies in patients after acute angle-closure glaucoma attack

2017

Background The aim of our current investigation was to analyze the autoantibody -reactivities of patients after acute angle closure glaucoma (AACG) by means of a protein microarray approach to identify intraocular pressure (IOP)-dependent antibodies. Methods Collected sera from different study time points (AACG n = 6, 0, 2, 4 and 12 weeks) and control group (CTRL n = 11, 0 and 12 weeks) were analyzed. Protein-microarrays were incubated with sera and occurring immunoreactivities were visualized with fluorescence labeled anti-human-IgG antibodies. To detect changes, spot intensities were digitized and compared with statistical techniques. Results Three autoantibodies with significant level-al…