Multimodal assessment of choroideremia patients defines pre-treatment characteristics

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• 作者：Immanuel P. Seitz ; Ahmad Zhour ; Susanne Kohl…
• 关键词：Choroideremia ; Gene therapy ; Autofluorescence ; Symmetry
• 刊名：Graefe's Archive for Clinical and Experimental Ophthalmology
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：253
• 期：12
• 页码：2143-2150
• 全文大小：1,456 KB
• 参考文献：1.Mauthner L (1872) Ein Fall von Chorioideremie. Bericht des Naturwissenschaftlich-Medizinischen Vereins Innsbruck:191鈥?97
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• 作者单位：Immanuel P. Seitz (1) (2)
  Ahmad Zhour (1)
  Susanne Kohl (2)
  Pablo Llavona (2)
  Tobias Peter (3)
  Barbara Wilhelm (3)
  Eberhart Zrenner (1) (2)
  Marius Ueffing (2)
  Karl Ulrich Bartz-Schmidt (1)
  M. Dominik Fischer (1) (4) (5) (6)
  
  1. University Eye Hospital, University of T眉bingen, T眉bingen, Germany
  2. Institute for Ophthalmic Research, University of T眉bingen, T眉bingen, Germany
  3. STZ Eyetrial, Centre for Ophthalmology, University of T眉bingen, T眉bingen, Germany
  4. Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, UK
  5. Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK
  6. Merton College, University of Oxford, Oxford, OX1 4JD, UK
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Ophthalmology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1435-702X

文摘

Purpose Choroideremia (CHM) is a X-chromosomal disorder leading to blindness by progressive degeneration of choroid, retinal pigment epithelium (RPE), and retinal neurons. A current clinical gene therapy trial (NCT01461213) showed promising safety and efficacy data in a carefully selected patient population. The present study was performed to shed light on pre-treatment characteristics of a larger cohort of CHM patients using a high resolution multi-modal approach.