- [Hereditary retinochoroidal dystrophies. Part 1: Pathogenesis, diagnosis, therapy and patient counselling]U Kellner
Ophthalmologe 101:307-19; quiz 320. 2004..To date, therapy is limited. Major tasks for the ophthalmologists are providing low vision aids and adequate patient counselling...
- Fundus autofluorescence and mfERG for early detection of retinal alterations in patients using chloroquine/hydroxychloroquineUlrich Kellner
AugenZentrum Siegburg, Siegburg, Germany
Invest Ophthalmol Vis Sci 47:3531-8. 2006..To evaluate and compare the value of fundus autofluorescence (FAF) imaging and multifocal electroretinography (mfERG) in early detection of retinal alterations in patients using chloroquine/hydroxychloroquine (CQ/HCQ)...
- [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]U Kellner
Augenklinik Campus Benjamin Franklin, Charite Universitatsmedizin, Berlin
Ophthalmologe 101:830-5. 2004..This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction...
- Chloroquine retinopathy: lipofuscin- and melanin-related fundus autofluorescence, optical coherence tomography and multifocal electroretinographyUlrich Kellner
AugenZentrum Siegburg, Europaplatz 3, 53721 Siegburg, Germany
Doc Ophthalmol 116:119-27. 2008....
- Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene clusterUlrich Kellner
Department of Ophthalmology Campus Benjamin Franklin, Charite Universitatsmedizin, Berlin, Germany
Graefes Arch Clin Exp Ophthalmol 242:729-35. 2004..X-linked blue cone monochromatism (BCM) has to be differentiated from x-linked cone dystrophy and autosomal recessive rod monochromatism...
- [Hereditary retinochoroidal dystrophies. Part 2: differential diagnosis]U Kellner
Augenklinik Charité, Campus Benjamin Franklin, Berlin
Ophthalmologe 101:397-412; quiz 413-4. 2004..Stationary inherited retinal dysfunction (e.g. monochromatism, congenital stationary night blindness) and other inherited or acquired diseases have to be excluded as well. Guidelines for differential diagnosis are presented...
- [Clinical findings and diagnostics of cone dystrophy]U Kellner
AugenZentrum Siegburg, Retina Science, Europaplatz 3, 53721 Siegburg, Deutschland
Ophthalmologe 106:99-108. 2009..The purpose of the present review of the clinical presentation and diagnosis of cone dystrophies is to provide guidelines for improved patient care...
- Spectral domain optical coherence tomography detects early stages of chloroquine retinopathy similar to multifocal electroretinography, fundus autofluorescence and near-infrared autofluorescenceS Kellner
AugenZentrum Siegburg, 53721 Siegburg, Germany
Br J Ophthalmol 93:1444-7. 2009....
- [Screening for retinopathy of prematurity: results of one centre between 1991 and 2002]C Jandeck
Universitatsaugenklinik, Charite Universitatsmedizin Berlin, Campus Benjamin Franklin, Berlin
Klin Monbl Augenheilkd 222:577-85. 2005..The aim of this study was to analyse the results of retinopathy of prematurity (ROP) screening, stage of disease and time of treatment from one tertiary care centre...
- Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosaU Kellner
Retina Science, AugenZentrum Siegburg, Siegburg, Germany
Eye (Lond) 23:1349-59. 2009..To compare melanin-related near-infrared fundus autofluorescence (FAF; NIA, excitation 787 nm, emission >800 nm) with lipofuscin-related FAF (excitation 488 nm, emission >500 nm) in retinitis pigmentosa (RP)...
- Vasoproliferative tumours of the retinaH Heimann
Department of Ophthalmology, University Hospital Benjamin Franklin, Free University, Berlin, Germany
Br J Ophthalmol 84:1162-9. 2000..The tumours, which histologically represent reactive gliovascular proliferations, are characterised by a pink to yellow appearance on funduscopy and are accompanied by exudative and haemorrhagic changes of the retina...
- [Evidence-based diagnostic approach to inherited retinal dystrophies 2009]U Kellner
RetinaScience, AugenZentrum Siegburg
Klin Monbl Augenheilkd 226:999-1011. 2009..Clinical diagnosis and differential diagnosis are difficult. The purpose of the current paper is to provide guidelines for an effective diagnostic approach...
- Morphology and functional characteristics in adult vitelliform macular dystrophyAgnes B Renner
Augenklinik, Campus Benjamin Franklin, Charite Universitatsmedizin Berlin, Berlin, Germany
Retina 24:929-39. 2004..Detailed morphologic and functional evaluation of adult vitelliform macular dystrophy (AVMD)...
- Fundus autofluorescence (488 NM) and near-infrared autofluorescence (787 NM) visualize different retinal pigment epithelium alterations in patients with age-related macular degenerationUlrich Kellner
AugenZentrum Siegburg, Europaplatz, Siegburg, Germany
Retina 30:6-15. 2010....
- Inner retinal function in hereditary retinal dystrophiesK Ruether
Charité Virchow Eye Hospital, Berlin, Germany
Acta Anat (Basel) 162:169-77. 1998..However, interpretation has to be made carefully, as on- and off-responses may be influenced by dysfunction of photoreceptor synapses to bipolar cells, bipolar cells, Müller cells and intercellular matrix...
- Concentric retinal pigment epithelium atrophy after a single photodynamic therapyJoachim Wachtlin
Augenklinik, Universitatsklinikum Benjamin Franklin, Freie Universitat Berlin, Hindenburgdamm 30, 12200, Berlin, Germany
Graefes Arch Clin Exp Ophthalmol 241:518-21. 2003..To report a case with concentric retinal pigment epithelium (RPE) atrophy after a single photodynamic therapy (PDT)...
- Lipofuscin- and melanin-related fundus autofluorescence in patients with ABCA4-associated retinal dystrophiesSimone Kellner
AugenZentrum Siegburg, Siegburg, Germany
Am J Ophthalmol 147:895-902, 902.e1. 2009....
- Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogramAgnes B Renner
Department of Ophthalmology, Charite Universitatsmedizin Berlin, Campus Benjamin Franklin, Berlin, Germany
Ophthalmology 113:2066.e1-10. 2006..To analyze the variability of clinical and electrophysiological characteristics in X-linked choroideremia and provide the first report of a negative electroretinogram in choroideremia...
- Recording of both VEP and multifocal ERG for evaluation of unexplained visual loss electrophysiology in unexplained visual lossAgnes B Renner
Augenklinik, Charite Universitatsmedizin Berlin, Berlin, Germany
Doc Ophthalmol 111:149-57. 2005..Electrophysiological testing prior to neuroimaging is recommended for patients where clear clinical signs of cerebral disorders are not evident. This reduces the frequency of unnecessary neuroimaging and associated radiation exposure...
- Spectral domain optical coherence tomography in adult-onset vitelliform macular dystrophy with cuticular drusenRobert P Finger
Department of Ophthalmology, University of Bonn, Bonn, Germany
Retina 30:1455-64. 2010....
- Cone dysfunction in patients with late-onset cone dystrophy and age-related macular degenerationMarkus Ladewig
Department of Ophthalmology, Universitäts Klinikum Benjamin Franklin, Freie Universitat Berlin, Berlin, Germany
Arch Ophthalmol 121:1557-61. 2003..To determine the clinical and functional findings in patients with late-onset cone dystrophy (LOCD) (after the age of 50 years), which is rare; and to compare them with those of patients with age-related macular degeneration (AMD)...
- Late onset is common in best macular dystrophy associated with VMD2 gene mutationsAgnes B Renner
Augenklinik, Charite Campus Benjamin Franklin, Universitatsmedizin Berlin, Berlin, Germany
Ophthalmology 112:586-92. 2005..To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene...
- Dysfunction of transmission in the inner retina: incidence and clinical causes of negative electroretinogramAgnes B Renner
Augenklinik, Charite Universitatsmedizin Berlin, Campus Benjamin Franklin, Hindenburgdamm 30, D 12200 Berlin, Germany
Graefes Arch Clin Exp Ophthalmol 244:1467-73. 2006..The purpose of this study is therefore to determine the incidence and clinical causes of a negative ERG in a tertiary care centre focused on inherited and acquired retinal degenerations...
- [Comparison of the anatomical and functional outcome after laser or cryotherapy for retinopathy of prematurity (ROP)]C Jandeck
Universitatsaugenklinik, Charite Universitatsmedizin, Campus Benjamin Franklin, Berlin
Ophthalmologe 102:33-8. 2005..To analyze and compare the anatomical and functional outcome following cryotherapy or laser therapy for ROP...
- Long-term results following pars plana vitrectomy with platelet concentrate in pediatric patients with traumatic macular holeJoachim Wachtlin
Department of Ophthalmology, Universitatsklinikum Benjamin Franklin, Freie Universitat Berlin, Berlin, Germany
Am J Ophthalmol 136:197-9. 2003..To describe the long-term clinical course in children with a traumatic macular hole after vitrectomy with platelet concentrate...
- Late retinal detachment in patients born prematurely: outcome of primary pars plana vitrectomyClaudia Jandeck
University Eye Clinic, Universitatsklinikum Benjamin Franklin, Berlin, Germany
Arch Ophthalmol 122:61-4. 2004..To describe the indications and results of pars plana vitrectomy for rhegmatogenous retinal detachment in patients born prematurely...
- Successful treatment of severe retinal vascular abnormalities in incontinentia pigmentiClaudia Jandeck
University Eye Clinic, Charite Campus Benjamin Franklin, Berlin, Germany
Retina 24:631-3. 2004
- Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsiaSusanne Kohl
Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
Am J Hum Genet 71:422-5. 2002..Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia...
- Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degenerationVeronique B D Kitiratschky
Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
Invest Ophthalmol Vis Sci 49:5015-23. 2008..The present study was a comprehensive screening of the GUCY2D gene in 27 adCD and adCRD unrelated families of these rare disorders...
- Imaging and the perspective of clinical electrophysiologyUlrich Kellner
Doc Ophthalmol 116:75-7. 2008
- ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCTAgnes B Renner
Augenklinik, Charite Campus Benjamin Franklin, Universitatsmedizin Berlin, Hindenburgdamm 30, 12200 Berlin, Germany
Doc Ophthalmol 116:97-109. 2008..A negative electroretinogram (ERG), i.e., a b/a wave ratio <1.0 in the standard combined response, is considered a key diagnostic feature of RS. Only a few cases without a negative ERG have been reported...
- ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophiesVeronique B D Kitiratschky
Institute for Ophthalmic Research, Centre for Ophthalmology, University Tübingen, Tubingen, Germany
Eur J Hum Genet 16:812-9. 2008....
- CRB1 mutation spectrum in inherited retinal dystrophiesAnneke I den Hollander
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Hum Mutat 24:355-69. 2004..In this article, we provide an overview of the currently known CRB1 sequence variants, predict their effect, and propose a genotype-phenotype correlation model for CRB1 mutations...
- Long-term results after surgical extraction of subfoveal choroidal neovascular membranes with and without haemorrhage in age-related macular degenerationAmeli Gabel-Pfisterer
Augenklinik, Charité Universitätsmedizin Campus Benjamin Franklin, Hindenburgdamm 30, 12200 Berlin, Germany
Graefes Arch Clin Exp Ophthalmol 242:350-4. 2004..Surgical extraction has been suggested as a treatment of choroidal neovascular membranes. We demonstrate the long-term results of our patients regarding complications, risk of recurrence and development of visual acuity...
- Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone SyndromeAlan F Wright
MRC Human Genetics Unit, Western General Hospital, Edinburgh, United Kingdom
Hum Mutat 24:439. 2004....
- Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosisSuzanne Yzer
The Rotterdam Eye Hospital, Rotterdam, The Netherlands
Invest Ophthalmol Vis Sci 47:1167-76. 2006....
- Primary vitrectomy for rhegmatogenous retinal detachment: an analysis of 512 casesHeinrich Heimann
St Paul s Eye Unit, Royal Liverpool University Hospital, UK
Graefes Arch Clin Exp Ophthalmol 244:69-78. 2006..However, the surgical procedure is still flawed by a significant rate of anatomical and functional failures. The study was conducted to analyse the risk factors for a dissatisfying postoperative outcome...
- Bilateral vasoproliferative retinal tumors with identical localization in a pair of monozygotic twinsJoachim Wachtlin
Department of Ophthalmology, University Medical Center Benjamin Franklin, Free University of Berlin, Hindenburgdamm 30, 12200 Berlin, Germany
Arch Ophthalmol 120:860-2. 2002
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl
Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
Eur J Hum Genet 13:302-8. 2005..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...