A5024981256- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Retinopathy of Prematurity Studies
- Glaucoma and retinal disorders
- Ophthalmology and Eye Disorders
- Neonatal Respiratory Health Research
- Retinal and Optic Conditions
- Ocular Disorders and Treatments
- Retinal and Macular Surgery
- melanin and skin pigmentation
- Connexins and lens biology
- Intraocular Surgery and Lenses
- Ophthalmology and Visual Impairment Studies
- Retinal Imaging and Analysis
- Corneal surgery and disorders
- Photoreceptor and optogenetics research
- Neonatal and fetal brain pathology
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Immunodeficiency and Autoimmune Disorders
- Virus-based gene therapy research
- Mitochondrial Function and Pathology
- Vestibular and auditory disorders
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
Justus-Liebig-Universität Gießen
2016-2025
TransMIT (Germany)
2025
University Hospital Bonn
2021-2025
Kelowna General Hospital
2025
University of British Columbia
2021-2025
Universitätsklinikum Gießen und Marburg
2013-2024
University of Washington
2024
GSI Helmholtz Centre for Heavy Ion Research
2023
Ophthalmology Clinic
2023
Universitäts-Augenklinik Bonn
1991-2022
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations (CNVs) non-coding regions, we extended the use NGS data by quantitative readout for exons 55 RP LCA 126 patients, including 5' exons. We detected...
Abstract Heterozygous, de novo, loss‐of‐function mutations in SOX2 have been shown to cause bilateral anophthalmia. Here we provide a detailed description of the clinical features associated with five individuals reported and four newly identified cases (including first missense mutation). The ‐associated ocular malformations are variable type, but most often severe. Of nine patients, six had anophthalmia two contralateral microphthalmia sclerocornea. remaining case microphthalmia, posterior...
To report on a 6-year experience with wide-field digital imaging based telemedicine (WFDI telemedicine) to reduce the risk for blindness from retinopathy of prematurity (ROP). Wide-angle fundus cameras (RetCam 120, Massie Lab, Pleasanton, CA, USA) were installed in five neonatal intensive care units (NICUs) Germany. All prematures at screened WFDI, and local ophthalmologists asked continue binocular indirect ophthalmoscopy (BIO) according German guidelines. Image data coded transferred...
To validate a vascular severity score as an appropriate output for artificial intelligence (AI) Software Medical Device (SaMD) retinopathy of prematurity (ROP) through comparison with ordinal disease labels stage and plus assigned by the International Classification Retinopathy Prematurity, Third Edition (ICROP3), committee.Validation study AI-based ROP score.A total 34 experts from ICROP3 committee.Two separate datasets 30 fundus photographs each (0-5) (plus, preplus, neither) were labeled...