A5088556446- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Retinal Imaging and Analysis
- Ophthalmology and Visual Impairment Studies
- Corneal surgery and disorders
- Medical Practices and Rehabilitation
- Retinal and Optic Conditions
- Corneal Surgery and Treatments
- Medical and Health Sciences Research
- Retinal and Macular Surgery
- Intraocular Surgery and Lenses
- Ocular Disorders and Treatments
- Ocular Oncology and Treatments
- Ocular and Laser Science Research
- Ocular Surface and Contact Lens
- Ocular Diseases and Behçet’s Syndrome
- Retinopathy of Prematurity Studies
- Criminal Law and Policy
- Ophthalmology and Eye Disorders
- Migraine and Headache Studies
- Connexins and lens biology
- Ophthalmology and Visual Health Research
- melanin and skin pigmentation
- Social Policies and Healthcare Reform
Heidelberg University
2014-2023
Augenklinik Heidelberg
2012-2023
University Hospital Heidelberg
1990-2022
Massachusetts Eye and Ear Infirmary
2013
Harvard University
2013
McGill University Health Centre
2013
Heidelberg University
2005-2007
Springer Nature (Germany)
2004
Agaplesion Bethesda Klinik
2000
GTx (United States)
1998
Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic syndromic forms RD can be attributed to mutations in more than 200 genes. Consequently, next generation sequencing (NGS) technologies among the most promising approaches identify RD. We screened large cohort patients comprising 89 independent cases families with various subforms applying NGS platforms. While mutation...
To investigate retinal sensitivity in the junctional zone of geographic atrophy (GA), with variations fundus autofluorescence (FAF) patients advanced age-related macular degeneration (AMD).The spatial distribution and intensity FAF were recorded a confocal scanning laser ophthalmoscope (SLO). Eyes had normal background (group 1) or increased 2) surrounding atrophic patches. Retinal was assessed by applying light stimuli static automated full-threshold perimetry modified SLO. Threshold...
To evaluate whether the distance between optic nerve head and fovea in healthy eyes determined by scanning laser ophthalmoscope may facilitate estimation of location relative to disc patients with macular disease.The angular was measured, horizontal vertical directions, center 104 probands. For additional evaluation intraindividual variation 70 these persons contralateral eye measured as well.The differed vertically more than horizontally (-1.5 +/- 0.9 degrees [-3.65 +0.65 ] vs. 15.5 1.1...
Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ∼70% of LCA patients. The aim the present study was to identify new genetic causes LCA.Homozygosity mapping in >150 patients worldwide origin performed high-density SNP microarrays disease-causing genes.In three isolated patients, authors large homozygous regions on chromosome 3 encompassing IQCB1 gene, which has been associated Senior-Loken syndrome (SLSN), characterized by...
To assess changes of the light increment sensitivity (LIS) macular area in patients with type 2 idiopathic telangiectasia (IMT).Fifty-eight eyes 30 were examined a cross-sectional study. All assigned to group A (early disease stages) or B (late stages retinal pigment clumping vascular membranes). Investigation visual function included acuity and fundus-related microperimetry.Thirty-seven 16 B, respectively. Temporal fovea, each eye had an absolute scotoma. Topographically, areas reduced LIS...
To determine the genetic defect and to describe clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients.One hundred thirty-nine patients with diagnosed CRD were recruited. Ninety them screened for known mutations ABCA4, those carrying one or two excluded from further research. Genome-wide homozygosity mapping was performed remaining 108. Known genes associated autosomal recessive retinal dystrophies located within homozygous region mutations....
To assess the occurrence and disease expression of common p.Asn1868Ile variant in patients with Stargardt (STGD1) harboring known, monoallelic causal ABCA4 variants.The coding noncoding regions were sequenced 67 63 STGD1 probands respectively, variants. In case was detected, segregation analysis performed whenever possible. Probands affected siblings without additional variants cis clinically evaluated retrospectively. Two asymptomatic carrying same as their examined. The penetrance...