小结
定义
病史和体格检查
关键诊断因素
- presença de fatores de risco
- história familiar de perda da visão
- história médica pregressa de deficiência de vitamina A (retinol) ou malignidade
其他诊断因素
- acuidade visual reduzida em luz fraca
- respostas pupilares variáveis (dependendo da causa subjacente)
- atenuação vascular retiniana
- perda de campo visual
- degeneração coriorretiniana periférica
- história de medicamentos que interferem no metabolismo da vitamina A (retinol)
危险因素
- retinite pigmentosa
- cegueira noturna congênita estacionária
- deficiência de vitamina A (retinol)
- retinopatia associada ao câncer
- retinopatia associada ao melanoma
- atrofia girata
- coroideremia
诊断性检查
首要检查
- eletrorretinografia (ERG)
- biomicroscopia de fenda e oftalmoscopia indireta
需考虑的检查
- nível sérico de vitamina A (retinol)
- sequenciamento de próxima geração
治疗流程
cegueira noturna genética
cegueira noturna adquirida
撰稿人
作者
Jonathan Smith, FRCOphth, MRCP
Consultant Ophthalmologist
Sunderland Eye Infirmary
Sunderland
UK
利益声明
JS has received sponsorship from Novartis, Bayer, and DORC for meeting travel and accommodation. JS was awarded a research grant in 2017 by the British Vitreoretinal Society.
Muhammad Raza Cheema, MRCGP, MRes, FRCOphth, FEBO
Specialist Registrar
Ophthalmology
Sunderland Eye Infirmary
Sunderland
UK
利益声明
MRC declares that he has no competing interests.
Wendy Adams, MRCP, FRCOphth
Consultant Ophthalmologist
Sunderland Eye Infirmary
Sunderland
UK
利益声明
WA declares that she has no competing interests.
鸣谢
Dr Jonathan Smith, Dr Wendy Adams, and Dr Muhammad Raza Cheema would like to gratefully acknowledge the assistance of Ms Karen Bradshaw. KB declares that she has no competing interests.
同行评议者
Makoto Nakamura, MD
Associate Professor
Department of Ophthalmology
Nagoya University Graduate School of Medicine
Nagoya
Japan
利益声明
MN declares that he has no competing interests.
Eric Amesbury, MD
Klara Spinks Fleming Fellow
Jules Stein Eye Institute
UCLA
Los Angeles
CA
利益声明
EA declares that he has no competing interests.
Creig S. Hoyt, MD
Emeritus Professor and Chairman
Department of Ophthalmology
University of California
San Francisco
CA
利益声明
CSH 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
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. 摘要
Petzold A, Plant GT. Clinical disorders affecting mesopic vision. Ophthalmic Physiol Opt. 2006 May;26(3):326-41. 摘要
Goodwin P. Hereditary retinal disease. Curr Opin Ophthalmol. 2008 May;19(3):255-62. 摘要
Law WC, Rando RR. The molecular basis of retinoic acid induced night blindness. Biochem Biophys Res Commun. 1989 Jun 15;161(2):825-9. 摘要
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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