BMJ Best Practice
最后审核时间： 十月 2018
最近更新时间： 一月 2018

小结

定义

病史和查体

关键诊断因素

  • 存在的危险因素
  • 周边视力下降
  • 夜盲症
  • 暗适应受损
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其他诊断因素

  • 蜡样苍白视乳头
  • 闪光幻觉
  • 屈光不正
  • 白内障
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危险因素

  • 家族史
  • 相关综合征的发生
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诊断性检查

首要检查

  • 视力评估
  • Goldmann动态视野测量试验
  • 视网膜电流图 (ERG)
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需要考虑的检查

  • 最终暗适应阈值升高
  • 光学相干断层扫描 (OCT)
  • 基因检测
  • 自适应光学成像
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新兴检查

  • 全外显子组测序
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治疗流程

急性

所有患者

贡献者

作者 查看所有

Mark E. Pennesi MD, PhD

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

利益冲突披露
MEP has worked as a consultant for IONIS Pharmaceuticals, Sparks Therapeutics, Editas, ProQR Therapeutics, and Applied Genetic Technologies Corp. He has received clinical trial support from Applied Genetic Technologies Corp, Sanofi, and grant support from the Foundation Fighting Blindness.
Richard G. Weleber MD

Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

利益冲突披露
RGW has served as consultant to Novartis, Pfizer, and Wellstat; is a member of the scientific advisory board for Applied Genetic Technologies Corp; and serves on the scientific advisory board for the Foundation Fighting Blindness (the relationship has been reviewed and managed by Oregon Health & Science University). RGW also reports having received grants and personal fees from the Foundation Fighting Blindness and Applied Genetic Technologies Corp, and other support from Sanofi-Fovea, all outside the submitted work. In addition, RGW has a patent (US patent 8,657,446, Method and apparatus for visual field monitoring, also known as Visual Field Monitoring and Analysis, or VFMA, which has not been issued).
Paul Yang MD, PhD

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

利益冲突披露
PY declares that he has no competing interests.

Dr Mark E. Pennesi, Dr Richard G. Weleber, and Dr Paul Yang would like to gratefully acknowledge Dr Peter J. Francis, a previous contributor to this monograph. PJF declares that he has no competing interests.

同行评议专家 查看所有

Consultant Ophthalmologist

Sunderland Eye Infirmary

Sunderland

UK

利益冲突披露
SF declares that he has no competing interests.

Professor of Ophthalmology

Director

Center for Genetic Eye Diseases

Cole Eye Institute

Cleveland Clinic

Cleveland

OH

利益冲突披露
ET declares that he has no competing interests.

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