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Introduction
Current institution
Publications
Publications (54)
Purpose
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 the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression.
Patients and Methods
Forty eyes...
![PRISMA 2020 flow diagram. Source: [134].](publication/383508377/figure/fig1/AS:11431281277875898@1726288781442/PRISMA-2020-flow-diagram-Source-134_Q320.jpg)
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in...
Background
To investigate the presence of silicone oil (SO)-emulsification on the anterior iris surface with anterior segment optical coherence tomography (AS-OCT).
Methods
In this single-center cross-sectional study, vitrectomized eyes with SO tamponade that underwent AS-OCT imaging and gonioscopy examination during the postoperative follow-up vi...
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 of morphological changes underlying CRT loss and disease progression in patients receiving intracerebroventricular (ICV) enzyme replacement therapy (ERT) with...
Introduction
X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, relationship between structural and functional parameters, and disease progression is vital.
Methods
In this r...
Zusammenfassung
Hintergrund
Aufkommende Therapien führen zu wachsendem Interesse an hereditären Netzhauterkrankungen (engl. „inherited retinal diseases“ [IRDs]), einer heterogenen Gruppe seltener Erkrankungen, die potenziell zur Erblindung führen. Aktuell sind nur unzureichend systematische Studien zur Demografie und zum Management der IRDs in deu...
Background
To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.
Methods
Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (M...
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, wh...
Background Mantle cell lymphomas (MCL) represent a rare subclass of Non-Hodgkin Lymphoma affecting the lacrimal gland (GL).
Aim To extensively describe the immunohistochemical profile of GL-MCL.
Material und Methods Single center, retrospective electronic records review of 3 patients with biopsy proven LG-MCL.
Results The herein presented case s...
Introduction: We report a case of a patient with mucopolysaccharidosis (MPS) type VI disease who underwent bilateral penetrating keratoplasty. The insight into deeper ocular structures after successful keratoplasty enabled the diagnosis of glaucoma. Case Report: A 24-year-old male patient with genetically confirmed MPS VI disease was referred for o...
Background/aims:
Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise the progression of CLN2-associated retinal degeneration in patients under intraventricular enzyme replacement therapy (ERT) with cerliponase alfa.
Methods:...
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 of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span.
Methods
Prospe...
Purpose:
To investigate the efficacy and safety profile of retinal tacks (RTs) in cases of retinal detachment (RD) with advanced proliferative vitreoretinopathy (PVR).
Materials and methods:
In this single-center, retrospective study medical record, optical coherence tomography and ultra-widefield fundus images of patients with complex PVR-relat...
Zusammenfassung
Klinische Studien mit Arzneimitteln oder Medizinprodukten stellen zunehmend komplexe Anforderungen an Sponsoren und beteiligte Zentren. In den letzten 2 Jahrzehnten delegieren Sponsoren regulatorische sowie organisatorische Studienaufgaben zunehmend an medizinische Auftragsinstitute (engl. Clinical Research Organisation [CRO]). In d...
Background
CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, ex...
Purpose
The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic disease parameters.
Methods
Automatically quantified perimacular retinal vessel tortuosity (MO...
Aim:
To elucidate the question of whether the ocular trauma score (OTS) and the zones of injury could be used as a predictive model of traumatic and post traumatic retinal detachment (RD) in patients with open globe injury (OGI).
Methods:
A retrospective observational chart analysis of OGI patients was performed. The collected variables consiste...
Zusammenfassung
Hintergrund
Die eröffnende und die minimal-invasive Tränenwegschirurgie gehören zu den häufigen Operationsindikationen. Jedoch ist bislang wenig über die jeweilige Beeinflussung der Lebensqualität bekannt.
Ziel der Arbeit
Mit dieser Studie soll die subjektive Beeinflussung der Lebensqualität von Patienten nach eröffnenden und mini...
Zusammenfassung
Hintergrund und Ziel der Arbeit
Über die Frage, ob nach Blepharoplastik, Levatorresektion oder lateraler Zügelplastik Refraktions- oder Topographieveränderungen zu erwarten sind, besteht weitestgehend Unklarheit.
Material und Methoden
Daher wurden in der vorliegenden Studie prä- sowie postoperativ von 78 Patienten objektive Refrak...
Background
Neuronal ceroid lipofuscinoses are hereditary lysosomal storage diseases, which lead to a progressive neurodegeneration of the brain and retina. Visual loss can be the initial symptom but can also occur later in the course of the disease.Objective
The aim of this article is to provide ophthalmologists with an overview of the characterist...
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 LCHADD patients trying to clarify if early diagnosis has an impact on the course and outcome of chorioretinal degeneration.
Methods: Long-term follow-up of visual acuity and s...
Background: CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2), or Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed d...
We have recently demonstrated that neural stem cell-based intravitreal co-administration of glial cell line-derived neurotrophic factor (GDNF) and ciliary neurotrophic factor (CNTF) confers profound protection to injured retinal ganglion cells (RGCs) in a mouse optic nerve crush model, resulting in the survival of~38% RGCs two months after the nerv...
Purpose
Juvenile CLN3 disease, the most prevalent form of Batten disease, is a progressive neurodegenerative disorder resulting from mutations in the CLN3 gene. The objective of the study was to design an ophthalmic rating scale for CLN3 disease in order to quantify disease progression.
Design
Retrospective, cross-sectional study
Methods
Patients...
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 by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance.
Methods:
54 eyes of 27 FD patients and 54 eyes of 27 c...
In primary hyperoxaluria type 1 (PH1) systemic oxalate deposition (oxalosis) in end stage renal disease (ESRD) is associated with high morbidity and mortality, particularly in children with infantile oxalosis (IO). Combined liver and kidney transplantation (CLKT) is the only curative treatment option in these patients. After CLKT, systemic oxalosis...
Purpose:
To investigate ophthalmic features in a large group of patients with primary hyperoxaluria type 1 (PH1) and to determine the relation between ocular involvement and systemic disease severity.
Design:
Retrospective, cross-sectional, multicenter study of the OxalEurope Registry Network.
Methods:
Sixty-eight patients with PH1 were includ...
Background/Aims
To provide evidence of statistically significant difference in the surgical outcome of the lateral tarsal strip with everting sutures (LTS + ES) versus the Quickert procedure (QP) in the treatment of involutional entropion.
Methods
In a prospective randomized comparative trial, 66 eyelids of 52 patients with primary involutional lo...
Wir stellen einen Fall von bilateralen choroidalen Abszessen aufgrund multiresistenter gramnegativer (4MRGN) Pseudomonas-aeruginosa-Kolonisation bei einem Patienten mit Mukoviszidose unter Immunsuppression nach Lungentransplantation vor. Bilaterale choroidale und subretinale Abszesse wurden mittels Fundoskopie, Sonographie, MRT und Phakovitrektomie...
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 as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and...
Okuloplastische Eingriffe stellen aufgrund der funktionellen Bedeutung der Lider für die Oberfläche des Auges spezielle Anforderungen an die postoperative Nachsorge. Wir geben eine Übersicht über die Möglichkeiten, Grenzen und die wissenschaftliche Evidenz zur Nachsorge nach lidchirurgischen Eingriffen hinsichtlich Schwellungsbekämpfung, Schmerzlin...
PurposeVisual impairment represents an infrequent form of cisplatin-induced neurotoxicity; however, visual deterioration has been reported in several studies. To evaluate potential morphological and functional retinal alterations in patients with germ cell cancer (GCC) treated with cisplatin-based chemotherapy (CBC). Methods
Multi-disciplinary and...
Fabry disease is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data wa...
Hintergrund Basalzellkarzinome (BCC) zählen zu den häufigsten periorbitalen Tumoren. Der Goldstandard der Behandlung ist eine histologisch gesicherte R0-Resektion des Tumors mit anschließender Rekonstruktion der periorbitalen Region. Bei weit fortgeschrittenen Befunden oder inoperablen Patienten sind alternative Therapiestrategien erforderlich. Sei...
Purpose:
Neuronal ceroid lipofuscinoses comprise a genetically heterogeneous group of mainly childhood-onset neurodegenerative lysosomal storage disorders. Progressive loss of vision is among the typical clinical symptoms of these fatal disorders. Here, we performed a detailed analysis of retinal degeneration in mice deficient in the lysosomal mem...
Minor eyelid abnormalities are commonly encountered in mucopolysaccharidosis, but only rarely leading to a clinically relevant situation. The authors report a clinical case of severe bilateral cicatricial entropion of the upper eyelids, leading to recurrent conjunctival infections, corneal erosion, persistent epiphora, and a major decline in life q...
Aims:
Juvenile CLN3 disease, one of the most common forms of a group of lysosomal storage diseases called neuronal ceroid lipofuscinoses (NCLs), is a progressive neurodegenerative disorder with initial visual deterioration. The objective of this study was to analyse the retinal phenotype of patients with CLN3 disease with the help of recent ophtha...
To assess the effect of hybrid iterative reconstruction (HIR) and filtered back projection (FBP) on abdominopelvic CT with reduced-dose (RD-APCT) in the evaluation of acute left-sided colonic diverticulitis (ALCD).
Twenty-five consecutive patients with suspected ALCD who underwent RD-APCT (mean CTDIvol 11.2 ± 4.2 mGy) were enrolled in this study. R...
This study was initiated to investigate whether the presence of macular oedema influenced intraocular lens (IOL) power calculation in eyes with epiretinal membrane.
The files of patients undergoing combined phacoemulsification were retrospectively reviewed. Two groups were defined according to presence of macular oedema. The main outcome measure wa...
