Veronika Vaclavik

Summary

Country: UK

Publications

  1. ncbi Autofluorescence imaging in age-related macular degeneration complicated by choroidal neovascularization: a prospective study
    Veronika Vaclavik
    Moorfields Eye Hospital, London, United Kingdom
    Ophthalmology 115:342-6. 2008
  2. ncbi Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy
    Veronika Vaclavik
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London, England
    Arch Ophthalmol 125:274-7. 2007
  3. ncbi Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation
    V Vaclavik
    Jules Gonin Eye Hospital, Lausanne, Switzerland
    Ophthalmic Genet 32:114-7. 2011
  4. ncbi Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
    Veronika Vaclavik
    Hopital Ophtalmique Jules Gonin, Oculogenetic unit 15, Lausanne, Switzerland
    Mol Vis 16:467-75. 2010
  5. ncbi Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8
    Cecilia G Maubaret
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 52:9304-9. 2011
  6. ncbi Phenotypic variation in enhanced S-cone syndrome
    Isabelle Audo
    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, United Kingdom
    Invest Ophthalmol Vis Sci 49:2082-93. 2008
  7. ncbi Novel phenotypic and genotypic findings in X-linked retinoschisis
    Stephen H Tsang
    Departments of Clinical Ophthalmology and Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, England
    Arch Ophthalmol 125:259-67. 2007
  8. ncbi Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
    Naushin H Waseem
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 48:1330-4. 2007
  9. ncbi Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
    Susan E Wilkie
    University College London Institute of Ophthalmology, London, United Kingdom
    Mol Vis 14:683-90. 2008
  10. ncbi Combined grading for choroidal neovascularisation: colour, fluorescein angiography and autofluorescence images
    Stela Vujosevic
    Fondazione G B Bietti per l Oftalmologia, IRCCS, Via Livenza 3, 00198 Roma, Italy
    Graefes Arch Clin Exp Ophthalmol 245:1453-60. 2007

Collaborators

Detail Information

Publications10

  1. ncbi Autofluorescence imaging in age-related macular degeneration complicated by choroidal neovascularization: a prospective study
    Veronika Vaclavik
    Moorfields Eye Hospital, London, United Kingdom
    Ophthalmology 115:342-6. 2008
    ....
  2. ncbi Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy
    Veronika Vaclavik
    Division of Molecular Genetics, Institute of Ophthalmology, University College London, 11-43 Bath Street, London, England
    Arch Ophthalmol 125:274-7. 2007
  3. ncbi Retinal dystrophy in the oculo-auricular syndrome due to HMX1 mutation
    V Vaclavik
    Jules Gonin Eye Hospital, Lausanne, Switzerland
    Ophthalmic Genet 32:114-7. 2011
    ..To report on the clinical and electrophysiological findings in a patient with oculo-auricular syndrome due to HMX1 mutation, with a follow-up of 12 years...
  4. ncbi Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene
    Veronika Vaclavik
    Hopital Ophtalmique Jules Gonin, Oculogenetic unit 15, Lausanne, Switzerland
    Mol Vis 16:467-75. 2010
    ....
  5. ncbi Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations in PRPF8
    Cecilia G Maubaret
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 52:9304-9. 2011
    ..Conclusions. This is the first report of marked intrafamilial variability associated with mutations in the PRPF8 gene, including incomplete penetrance. PRPF8 mutations should be suspected in patients with adRP and variable expressivity...
  6. ncbi Phenotypic variation in enhanced S-cone syndrome
    Isabelle Audo
    Department of Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, United Kingdom
    Invest Ophthalmol Vis Sci 49:2082-93. 2008
    ..To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation...
  7. ncbi Novel phenotypic and genotypic findings in X-linked retinoschisis
    Stephen H Tsang
    Departments of Clinical Ophthalmology and Electrophysiology, Moorfields Eye Hospital, 162 City Road, London, England
    Arch Ophthalmol 125:259-67. 2007
    ..To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1)...
  8. ncbi Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa
    Naushin H Waseem
    Department of Molecular Genetics, Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 48:1330-4. 2007
    ..The purpose of this study was to identify PRPF31 mutations in a cohort of 118 cases of autosomal dominant retinitis pigmentosa and determine the genotype-phenotype correlation emerging from the spectrum of mutations in this gene...
  9. ncbi Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31
    Susan E Wilkie
    University College London Institute of Ophthalmology, London, United Kingdom
    Mol Vis 14:683-90. 2008
    ..Here we examine in further detail the effect of the A216P mutation on splicing function...
  10. ncbi Combined grading for choroidal neovascularisation: colour, fluorescein angiography and autofluorescence images
    Stela Vujosevic
    Fondazione G B Bietti per l Oftalmologia, IRCCS, Via Livenza 3, 00198 Roma, Italy
    Graefes Arch Clin Exp Ophthalmol 245:1453-60. 2007
    ..In this study we introduce a new grading model of autofluorescence images (AF), compare it with fluorescein angiography (FFA) and digital colour fundus photos (COL) and test for inter- and intraobserver reliability...