A5032931650- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Biomedical Research and Pathophysiology
- Kidney Stones and Urolithiasis Treatments
- Cellular transport and secretion
- Cell Adhesion Molecules Research
- Atherosclerosis and Cardiovascular Diseases
- Retinal and Macular Surgery
- Porphyrin Metabolism and Disorders
- Chronic Lymphocytic Leukemia Research
- Traumatic Ocular and Foreign Body Injuries
- Facial Trauma and Fracture Management
- Connexins and lens biology
- Intraocular Surgery and Lenses
- Chronic Myeloid Leukemia Treatments
- Ocular Diseases and Behçet’s Syndrome
- Acute Lymphoblastic Leukemia research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- RNA regulation and disease
- Ginkgo biloba and Cashew Applications
- Ocular Disorders and Treatments
- Traumatic Brain Injury and Neurovascular Disturbances
- Chemokine receptors and signaling
University Medical Center Hamburg-Eppendorf
2017-2024
Universität Hamburg
2017-2024
Hanusch Hospital
2022
Klinik und Poliklinik für Augenheilkunde Universitätsklinikum Regensburg
2020
Eppendorf (Germany)
2016-2017
Schiller International University
2015
Friedrich Schiller University Jena
2015
Atherosclerosis is a chronic inflammatory disease of the arterial wall in which presentation autoantigens by dendritic cells (DCs) leads to activation T cells. Anti-inflammatory like Tregs counterbalance inflammation atherogenesis. In our study, human carotid plaque specimens were classified as stable (14) and unstable (15) according established morphological criteria. Vessel (n = 12) without any signs atherosclerosis used controls. Immunohistochemical staining was performed detect different...
Introduction X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish structural and functional endpoints clinical trials, comprehensive understanding of the inter-eye symmetry, relationship between parameters, disease progression vital. Methods In this retrospective multicentre study, 118 eyes 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: variant; age at presentation; best-corrected visual acuity...
Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of mutation p.D313Y still under debate. Retrospective chart analysis (neurological, cardiac, renal, and ophthalmological), genetic, biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was performed all our patients carrying mutation. Fourteen from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms organ manifestations...
Abstract Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1) is a neurodegenerative storage disorder caused by mutations in the gene encoding lysosomal enzyme palmitoyl-protein thioesterase (PPT1). CLN1 patients suffer from brain atrophy, mental and motor retardation, seizures, retinal degeneration ultimately resulting blindness. Here, we performed an in-depth analysis of phenotype PPT1-deficient mouse, animal model this condition. Reactive astrogliosis microgliosis were evident mutant...
Abstract Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. Methods 54 eyes 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp fundus examination. SD-OCT imaging the macula was performed all...
Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise progression CLN2-associated retinal degeneration in patients under intraventricular enzyme replacement therapy (ERT) with cerliponase alfa.We analysed visual function, morphology and neuropaediatric data using preferential looking test (PLT), Weill Cornell Batten Scale (WCBS), optical coherence tomography (OCT) imaging...
Abstract Purpose The aim of this case control study was to evaluate the prognostic value automatically quantified retinal vessel tortuosity from fundus images and density OCT-A in Fabry disease correlation these with systemic parameters. Methods Automatically perimacular (MONA REVA software), acquired by imaging, perifoveal density, optic coherence tomography angiography (OCT-A) were compared between 26 FD patients controls. Gender phenotype analyzed obtained retinovascular data correlated...
Purpose: Bilateral progressive, symmetrical loss of central retinal thickness (CRT) has been described in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. This study details the pattern morphological changes underlying CRT and disease progression patients receiving intracerebroventricular (ICV) enzyme replacement therapy (ERT) with cerliponase alfa. Methods: Spectral-domain optical coherence tomography macular cube scans were collected from 16 classic CLN2 ICV ERT. Detailed structure...
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter central nervous system. The broad spectrum metabolic and pathological causes leads to manifestations at any age, most often in childhood adolescence, variety symptoms. usually progressive, resulting severe disabilities premature death. Progressive visual impairment is common symptom. Currently, no overview manifold neuro-ophthalmologic impact leukodystrophies exists. Methods: Data from...
Peripheral artery disease (PAD) is a common manifestation of atherosclerosis. Inflammation important for initiation and progression the disease. Dendritic cells (DCs) as antigen-presenting play an role in immune system. Therefore, we hypothesize that, patients with PAD, DCPs might be reduced blood due to their recruitment into vascular wall induce proinflammatory response. The numbers myeloid DCPs, plasmacytoid total were analyzed by flow cytometry PAD (<mml:math...
To investigate the changes in macular cystic schisis (MCS) and sensitivity during day X-linked retinoschisis (XLRS) patients.Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing ETDRS charts, spectral domain optical coherence tomography, microperimetry (MP) twice a day, at 9 a.m. 4 p.m., to measure central retinal thickness (CRT), volume (MV), average threshold (AT), fixation stability parameters (P1 P2).At baseline, BCVA of 14 eyes 8...
In primary hyperoxaluria type 1 (PH1), systemic oxalate deposition (oxalosis) in end-stage renal disease (ESRD) is associated with high morbidity and mortality, particularly children infantile oxalosis (IO). Combined liver kidney transplantation (CLKT) the only curative treatment option these patients. After CLKT, decreases continuously, although insufficient data are available regarding retinopathy (ROx), leading to severe visual impairment. We analyzed long-term follow-up of ROx 13...
Atherosclerosis is an inflammatory disease of the vessel wall promoted by different immune cells and mediators.In this study, 26 human plaques 12 control vessels without atherosclerosis were immunohistochemically stained to analyze emergence mast dependent on plaque morphology correlate cell occurrence with myeloid as well plasmacytoid dendritic cells. Also, was correlated number pro-inflammatory T For this, classified stable or unstable according established histological criteria.As...
Background: Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well deposition oxalate crystals within ocular tissues. This report demonstrates classical features PH1 posterior pole furthermore highlights genotype–phenotype variability among siblings identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations.Materials Methods:...
Aims To assess peripapillary retinal nerve fibre layer (pRNFL) thickness in patients with X-linked retinoschisis (XLRS), as pRNFL thinning may limit functional improvements gene therapy trials. Methods This retrospective multicentre study included 49 eyes from 25 diagnosed XLRS. Data collected multimodal imaging at baseline and last follow-up (when available) age, best-recorded visual acuity (BRVA), central thickness, macular volume (MV), presence location of peripheral the global (G),...
To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate role optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 progression.
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS initial diagnosis contrast these diagnosis. Patients referred a clinic, which turned out have (n = 4), clinic for inherited retinal diseases 18) were included. All underwent comprehensive ophthalmic examinations, including imaging fundus photography, ultra-widefield imaging, optical coherence tomography...
Introduction: LCHADD causes retinopathy associated with low vision, visual field defects, nyctalopia and myopia. We report a retrospective long-term single-center study of 6 patients trying to clarify if early diagnosis has an impact on the course outcome chorioretinal degeneration. Methods: Long-term follow-up acuity staging degeneration by fundus photography, optical coherence tomography (OCT) autofluorescence (AF) in all six patients. Three (2 m/1 f; age 8-14.8 years) were diagnosed...
Abstract Purpose Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data patients confirmed genetic mutation non-classical disease course, marked by later onset, protracted progression prolonged life span. Methods Prospective, observational assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central thickness (CRT) measured optical coherence tomography...