A5043630025- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Retinal and Optic Conditions
- Retinal Imaging and Analysis
- Glaucoma and retinal disorders
- Retinal and Macular Surgery
- Ocular Diseases and Behçet’s Syndrome
- Optical Coherence Tomography Applications
- Neuroscience and Neural Engineering
- Ophthalmology and Visual Impairment Studies
- Visual perception and processing mechanisms
- RNA regulation and disease
- Photoreceptor and optogenetics research
- Cytomegalovirus and herpesvirus research
- Intraocular Surgery and Lenses
- Ocular Disorders and Treatments
- Cerebral Venous Sinus Thrombosis
- Ocular and Laser Science Research
- Coronary Artery Anomalies
- EEG and Brain-Computer Interfaces
- Multiple Sclerosis Research Studies
- Molecular Biology Techniques and Applications
- Biomedical Research and Pathophysiology
- Cardiac Imaging and Diagnostics
- Genetic and Kidney Cyst Diseases
University of Tübingen
2015-2025
STZ eyetrial
2016-2025
Universitäts-Augenklinik Bonn
2019
Doheny Eye Institute
2014-2017
University of Southern California
2015
University of California, Los Angeles
2015
Johns Hopkins University
2015
Achromatopsia linked to variations in the CNGA3 gene is associated with day blindness, poor visual acuity, photophobia, and involuntary eye movements owing lack of cone photoreceptor function. No treatment currently available.To assess safety vision outcomes supplemental therapy adeno-associated virus (AAV) encoding (AAV8.CNGA3) patients CNGA3-linked achromatopsia.This open-label, exploratory nonrandomized controlled trial tested vector AAV8.CNGA3 administered by subretinal injection at a...
To evaluate the perifoveolar retinal capillary network at different depths and to quantify foveal avascular zone (FAZ) in eyes with vein occlusion (RVO) compared their fellow healthy controls using spectral-domain optical coherence tomography angiography (SD-OCTA).We prospectively recruited 23 patients RVO including 15 central (CRVO) 8 branch (BRVO), eyes, age-matched (8 eyes) for imaging on prototype OCTA software within RTVue-XR Avanti. The 3 × mm 6 en face angiograms of superficial deep...
To characterize the vascular structure of Type 3 neovascularization secondary to age-related macular degeneration using optical coherence tomography angiography.Optical angiography cube scans (3 mm × mm) were acquired in 29 eyes 24 patients with lesions RTVue XR Avanti AngioVue, Split-spectrum amplitude-decorrelation, and motion correction technology. Automated layer segmentation boundaries adjusted best visualize neovascular complex on en face projection images.A distinct could be...
To describe the retinal microvasculature of eyes with nonarteritic artery occlusion (RAO) based on optical coherence tomography angiography.Cross-sectional, prospective, observational study performed from September 2014 through February 2015. En face projection angiography images centered at macula and optic disk presenting RAO were acquired using RTVue XR Avanti AngioVue software. Qualitative analysis morphology superficial deep capillary plexuses, radial peripapillary capillaries was...
We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a comprehensive cohort patients diagnosed largest center for IRD Germany. A 2,158 affected from 1,785 families with was analyzed by targeted next-generation sequencing (NGS). Patients single-gene disorders (i.e., choroideremia and retinoschisis) were Sanger multiplex ligation-dependent probe amplification. Our study accounts ∼7% estimated 30,000 Germany, thereby providing representative data both...
Purpose.: We characterized the foveal avascular zone (FAZ) and parafoveal capillary network in healthy subjects using swept source OCT optical microangiography (OMAG). Methods.: acquired OMAG images of macula 19 eyes (13 individuals) a prototype laser OCT. En face retinal vasculature were generated for superficial deep inner layers (SRL/DRL) regions interest 250 (ROI-250) 500 (ROI-500) μm from FAZ border. Results.: The mean area (mm2) was 0.304 ± 0.132 SRL 0.486 0.162 DRL (P < 0.001). Mean...
Choroideremia (CHM) is a rare, degenerative, genetic retinal disorder resulting from mutation of the CHM gene, leading to an absence functional ras-associated binding escort protein 1 (REP1). There currently no approved treatment for CHM.To assess safety and efficacy gene therapy with adeno-associated virus vector (AAV2) designed deliver version (AAV2-REP1) patients choroideremia.Tübingen Gene Therapy (THOR) was single-center, phase 2, open-label randomized clinical trial. Data were...
To determine long-term safety and efficacy outcomes of a subretinal gene therapy for CNGA3-associated achromatopsia. We present data from an open-label, nonrandomised controlled trial (NCT02610582).Details the study design have been previously described. Briefly, nine patients were treated in three escalating dose groups with AAV8.CNGA3 between November 2015 October 2016. After first year, seen on yearly basis. Safety assessment constituted primary endpoint. On secondary level, multiple...
To evaluate manual and semiautomated grading techniques for assessing decreased fundus autofluorescence (DAF) in patients with Stargardt disease phenotype.Certified reading center graders performed (region finder-based) of confocal scanning laser ophthalmoscopy (cSLO) (FAF) images 41 eyes 22 patients. Lesion types were defined based on the black level sharpness border: definite (DDAF), well, poorly demarcated questionably (WDQDAF, PDQDAF). Agreement between two methods inter- intra-grader...
Choroideremia (CHM) is a rare inherited retinal degeneration resulting from mutation of the CHM gene, which results in absence functional Rab escort protein 1 (REP1). We evaluated gene therapy with an adeno-associated virus vector that used to deliver version (AAV2-REP1).THOR (NCT02671539) Phase 2, open-label, single-center, randomized study. Six male patients (51-60 years) received AAV2-REP1, by single 0.1-mL subretinal injection 10 genome particles during vitrectomy. Twelve-month data are...
The prospective, non-interventional OCEAN study examined the use of intravitreal ranibizumab injections for treatment diabetic macular oedema (DME) in a real-world setting Germany.Adults with DME receiving ≥ 1 (0.5 mg) were recruited by 250 ophthalmologists. Best-corrected visual acuity (VA) testing, imaging and treatments performed according to investigators' routine practice documented over 24 months.The full analysis set included 1226 participants. Mean baseline VA was 60.6 [95% CI: 59.7;...
The authors present the case of a patient with history ischemic branch vein occlusion and multimodal imaging retinal vasculature by fluorescein angiography (FA) ultrahigh-speed swept-source optical coherence tomography (SS-OCT) microangiography (SS-OCT laser prototype; 1,050 nm, 100,000 A-scans/second). Multiple images across macula were acquired (3 × 3 mm cubes in clusters four repeated B-scans). En face generated implementing an intensity differentiation algorithm. as well areas...
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
SummaryInherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci account for the majority molecular diagnoses, other genes associated with IRD await identification. In this study, we uncover bi-allelic assortments 23 different (22 loss-of-function) AP5Z1, AP5M1, AP5B1 as independent causes recessive members 19 families from nine...
Abstract Background This study investigates the clinical manifestations of inherited retinal diseases (IRD) associated with dual-gene variant constellations involving biallelic ABCA4 variants. Methods We assess four cases for their unique phenotypic outcomes due to variants and additional genotypes in CACNA1F , IMPG1 HK1 MYO7A respectively. Results impact variants, including gene . In MST465-II:1, - constellation led progressive macular atrophy night blindness, nystagmus linked MST448-II:1,...
Abstract Purpose We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone‐rod retinal dystrophy ( CORD ) caused by pathogenic variants the ALMS 1 gene. Methods Seven Alström syndrome were included study. A comprehensive ophthalmological examination was performed, including best‐corrected visual acuity (BCVA), semiautomated kinetic field exam, colour vision testing, full‐field electroretinography testing according International Society for...
We introduce a new approach for functional mapping of rod and cone activity by measuring pupillary responses to local stimulation via gaze-controlled chromatic pupil campimetry (CPC).Pupillary constriction amplitude latency onset photopic scotopic light stimuli at different locations within the 30° central visual field were analyzed in 14 healthy subjects (4 males, 34 ± 11 years, mean standard deviation [SD]). All measured twice evaluating test-retest variability reproducibility method.For...
Achromatopsia is an autosomal recessively inherited congenital defect characterized by a lack of cone photoreceptor function, leading to severely impaired vision. In this clinical study, achromatopsia patients were treated with single subretinal injection rAAV.hCNGA3 restore function. The focus trial was on the safety treatment. After surgery, monitored in eight extensive visits during first year, followed 4-year follow-up period annual visits. For essential complementation standard...
In this retrospective, longitudinal, observational cohort study, we investigated the phenotypic and genotypic features of retinitis pigmentosa associated with variants in PDE6B gene. Patients underwent clinical examination genetic testing at a single tertiary referral center, including best-corrected visual acuity (BCVA), kinetic field (VF), full-field electroretinography, stimulus threshold, spectral domain optical coherence tomography, fundus autofluorescence imaging. The comprised...