Fadi Nasser
A5005663545- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Ophthalmology and Visual Impairment Studies
- melanin and skin pigmentation
- Retinal and Macular Surgery
- Ocular Disorders and Treatments
- Photoreceptor and optogenetics research
- Genomics and Rare Diseases
- Connexins and lens biology
- Genetic and Kidney Cyst Diseases
- Retinal Imaging and Analysis
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Visual perception and processing mechanisms
- Ocular and Laser Science Research
- Retinoids in leukemia and cellular processes
- Neuroscience and Neuropharmacology Research
- Biomedical Research and Pathophysiology
- Intraocular Surgery and Lenses
- Hair Growth and Disorders
- Blood disorders and treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Tactile and Sensory Interactions
- Hedgehog Signaling Pathway Studies
- Corneal Surgery and Treatments
University Hospital Leipzig
2024
Leipzig University
2022-2024
University of Tübingen
2016-2023
STZ eyetrial
2016-2023
Centre for Sight
2023
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 Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease genetics. We aimed evaluate a scalable framework for genome-based analyses ‘beyond exome’ regular care of patients with inherited retinal degeneration (IRD) or optic neuropathy (ION). Methods PCR-free short-read GS was performed on 1000 consecutive probands IRD/ION routine diagnostics. Complementary whole-blood RNA-sequencing (RNA-seq) done subset 74 patients. An open-source bioinformatics analysis...
Voretigene neparvovec is a gene therapeutic agent for treatment of retinal dystrophies caused by bi-allelic RPE65 mutations. In this study, we report on novel and objective evaluation retinotopic photoreceptor rescue.Seven eyes five patients (14, 21, 23, 24, 36 years, 1 male, 4 females) with mutations have been treated voretigene neparvovec. The clinical examinations included visual acuity testing, dark-adapted full-field stimulus threshold (FST), chromatic perimeter (DAC) 30-degree grid, 30...
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...
•This study reports a novel automated approach to quantify progression of visual dysfunction.•This was validated relative manual grading.•The rate at the disease front in Stargardt is reported.•The new method may allow shorter clinical trials or smaller cohorts both. PurposeMean sensitivity (MS) derived from standard test grid using microperimetry sensitive outcome measure investigating treatments for degenerative retinal diseases. This hypothesizes that functional decline faster edge dense...
To investigate genetics, electrophysiology, and clinical course of KCNV2-associated retinopathy in a cohort children adults.
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...
•KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes.•Disease course can be unpredictable and may severely affect children young adults.•Findings suggest potential window for intervention until 40 years of age, albeit variability patients due to macular atrophy. PurposeTo describe the detailed phenotype KCNV2-associated retinopathy.Study designMulticenter international retrospective case series.MethodsReview...
The aim of this study was to characterize the ophthalmic and genetic features Bardet Biedl (BBS) syndrome in a cohort patients from German specialized care center. Sixty-one patients, aged 5–56 years, underwent detailed examination including visual acuity color vision testing, electroretinography (ERG), visually evoked potential recording (VEP), fundus examination, spectral domain optical coherence tomography (SD-OCT). Adaptive optics flood illumination ophthalmoscopy performed five...
Treatment trials require sound knowledge on the natural course of disease.To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated biallelic sequence variations PDE6A gene preparation for a supplementation trial.This prospective, longitudinal, observational cohort study was conducted from January 2001 to December 2019 single center (Centre Ophthalmology University Tübingen, Germany) recruited multinationally 12...
Purpose: To describe a case of cone dysfunction associated with fundus albipunctatus. Methods: This report is an observational report. The examination included multimodal imaging, electrophysiological recordings after standard and prolonged dark adaption, disease targeted gene panel sequencing. Results: In this report, the authors present 55-year-old Chinese male findings on examination, optical coherence tomography, full-field electroretinography adaption consistent albipunctatus...
Abstract Purpose The aim of this study is to report on the phenotype and genotype five patients diagnosed with Cohen syndrome, an extremely rare autosomal recessive disorder manifesting mental physiological defects. Methods Five from three German families one Syrian family underwent a comprehensive ophthalmological examination. scheduled visual acuity measurements, fundus ophthalmoscopy, spectral domain optical coherence tomography (OCT), full‐field electrophysiological recordings scotopic...
Background/aims To investigate genotype–phenotype associations in patients with KCNV2 retinopathy. Methods Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Subjects were grouped according to the combination variants—two loss-of-function (TLOF), two missense (TM) or one each (MLOF)—and parameters compared. Results Ninety-two included. The mean age onset (mean±SD) TLOF (n=55), TM (n=23) MLOF (n=14) groups was...
Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM caused by mutations at the OPN1LW/MW opsin gene cluster including deletions locus control region (LCR) and/or parts cluster. We aimed investigating clinical presentation, genetic cause and inheritance underlying sporadic case BCM. report 24-year-old male presenting photophobia, nystagmus colour vision abnormalities. There was no history retinal dystrophy in family....
To analyse the spectrum of clinical features and molecular genetic data in a series patients carrying likely disease-associated variants BEST1 gene.Retrospective observational analysis extracted from medical records visual function, multimodal imaging electrophysiology 62 eyes 31 patients. Molecular was performed by means panel-based NGS or Sanger sequencing.The gene comprised 19 different three which are novel. Fundus photographs OCT images allowed categorization 52 as Best vitelliform...