Summary
定义
病史和体格检查
关键诊断因素
- positive family history
- presence of an associated syndrome
- decreased peripheral vision
- night blindness
- impaired dark adaptation
- decreased central acuity
- atrophy of retinal pigment epithelium
- bone spicule pigmentation
其他诊断因素
- waxy pale optic nerve
- photopsias
- refractive error
- cataracts
- retinal vascular attenuation
- cystoid macular edema
- vitreous cells
- glare from bright lights
- abnormal color vision
- keratoconus
- glaucoma
- optic nerve head drusen
- Coats-like retinopathy
- Leber congenital amaurosis
危险因素
- family history
- presence of an associated syndrome
诊断性检查
首要检查
- assessment of visual acuity
- full field perimetry
- full field electroretinogram (ERG)
需考虑的检查
- elevated final dark-adapted threshold
- optical coherence tomography (OCT)
- genetic testing
- adaptive optics imaging
- wide-field fundus autofluorescence (FAF)
新兴检查
- whole exome sequencing
治疗流程
all patients
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
参考文献
关键文献
American Academy of Ophthalmology. Comprehensive adult medical eye evaluation PPP. Nov 2020 [internet publication].全文
American Academy of Ophthalmology. Guidelines on clinical assessment of patients with inherited retinal degenerations - 2022. Oct 2022 [internet publication].全文
Robson AG, Frishman LJ, Grigg J, et al. ISCEV Standard for full-field clinical electroretinography (2022 update). Doc Ophthalmol. 2022 Jun;144(3):165-77.全文 摘要
American Academy of Ophthalmology. Recommendations for genetic testing of inherited eye diseases. February 2014 [internet publication].全文
参考文献
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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