小结
定义
病史和体格检查
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
- 中心视力降低
- 视网膜色素上皮萎缩
- 骨样色素沉着
其他诊断因素
- 蜡样苍白视乳头
- 闪光幻觉
- 屈光不正
- 白内障
- 视网膜血管变细
- 黄斑囊样水肿
- 玻璃体浮游细胞
- 眩光
- 色觉异常
- 圆锥角膜
- 青光眼
- 视乳头玻璃疣
- Coats样视网膜病
- Leber 先天性黑朦
危险因素
- 家族史
- 相关综合征的发生
诊断性检查
首要检查
- 视力评估
- 全视野计
- 全视野视网膜电图（ERG）
需考虑的检查
- 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
- 广角眼底自体荧光检查 (FAF)
新兴检查
- 全外显子组测序
治疗流程
所有患者
撰稿人
作者
Mark E. Pennesi, MD, PhD
Professor
Casey Eye Institute
Oregon Health and Sciences University
Portland
OR
利益声明
MEP serves on the scientific advisory board and executive committee for the Foundation Fighting Blindness.
Paul Yang, MD, PhD
Associate Professor
Casey Eye Institute
Oregon Health and Sciences University
Portland
OR
利益声明
PY acted as a consultant for Applied Genetic Technologies Corp in 2019 and was paid for a meeting regarding XLRP gene therapy, for which there was no agreement to disseminate information.
鸣谢
Dr Mark E. Pennesi and Dr Paul Yang would like to gratefully acknowledge Dr Richard G. Weleber and Dr Peter J. Francis, previous contributors to this topic.
利益声明
RGW has served as a 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). PJF declares that he has no competing interests.
同行评议者
Scott Fraser, MD, FRCS (Ed), FRCOphth
Consultant Ophthalmologist
Sunderland Eye Infirmary
Sunderland
UK
利益声明
SF declares that he has no competing interests.
Elias Traboulsi, MD
Professor of Ophthalmology
Director
Center for Genetic Eye Diseases
Cole Eye Institute
Cleveland Clinic
Cleveland
OH
利益声明
ET declares that he has no competing interests.
鉴别诊断
- 先天性风疹
- 梅毒
- 维生素 A 缺乏症
更多 鉴别诊断指南
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- 儿童眼科评估的首选实践模式
更多 指南
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