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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients
Affiliation:1. Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands;2. Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands;3. Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands;4. Department of Epidemiology and Biostatistics, Amsterdam University Medical Centers, Amsterdam, The Netherlands;5. Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium;6. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands;7. Center for Medical Genetics Ghent, Ghent University Hospital & Ghent University, Ghent, Belgium;8. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands;9. Institute of Molecular and Clinical Ophthalmology, University Hospital Basel, University of Basel, Basel, Switzerland;10. Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands;11. The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands;12. Department of Ophthalmology, School of Medicine, University of California at Davis, Sacramento, California;13. Division of Ophthalmology & CCMT, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania;14. The Netherlands Institute for Neuroscience (NIN-KNAW), Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands;15. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
Abstract:
Keywords:Genotype  Natural history  Phenotype  Surrogate end points  X-linked retinoschisis  D"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0040"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  diopter  ELM"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0050"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  external limiting membrane  EZ"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0060"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  ellipsoid zone  IQR"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0070"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  interquartile range  logMAR"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0080"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  logarithm of the minimum angle of resolution  PROS"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0090"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  photoreceptor outer segment  RPE"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0100"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  retinal pigment epithelium  SD"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0110"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  spectral-domain  VA"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0120"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  visual acuity  XLRS"  },{"  #name"  :"  keyword"  ,"  $"  :{"  id"  :"  kwrd0130"  },"  $$"  :[{"  #name"  :"  text"  ,"  _"  :"  X-linked retinoschisis
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