Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- história familiar de perda da visão
- história médica pregressa de deficiência de vitamina A (retinol) ou malignidade
Other diagnostic factors
- 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)
Risk factors
- retinite pigmentosa
- cegueira noturna congênita estacionária
- deficiência de vitamina A (retinol)
- retinopatia associada ao câncer
- retinopatia associada ao melanoma
- atrofia girata
- coroideremia
Diagnostic investigations
1st investigations to order
- eletrorretinografia (ERG)
- biomicroscopia de fenda e oftalmoscopia indireta
Investigations to consider
- nível sérico de vitamina A (retinol)
- sequenciamento de próxima geração
Treatment algorithm
cegueira noturna genética
cegueira noturna adquirida
Contributors
Authors
Jonathan Smith, FRCOphth, MRCP
Consultant Ophthalmologist
Sunderland Eye Infirmary
Sunderland
UK
Divulgaciones
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
Divulgaciones
MRC declares that he has no competing interests.
Wendy Adams, MRCP, FRCOphth
Consultant Ophthalmologist
Sunderland Eye Infirmary
Sunderland
UK
Divulgaciones
WA declares that she has no competing interests.
Agradecimientos
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.
Revisores por pares
Makoto Nakamura, MD
Associate Professor
Department of Ophthalmology
Nagoya University Graduate School of Medicine
Nagoya
Japan
Divulgaciones
MN declares that he has no competing interests.
Eric Amesbury, MD
Klara Spinks Fleming Fellow
Jules Stein Eye Institute
UCLA
Los Angeles
CA
Divulgaciones
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
Declarações
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.
Referências
Principais artigos
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. Resumo
Petzold A, Plant GT. Clinical disorders affecting mesopic vision. Ophthalmic Physiol Opt. 2006 May;26(3):326-41. Resumo
Goodwin P. Hereditary retinal disease. Curr Opin Ophthalmol. 2008 May;19(3):255-62. Resumo
Law WC, Rando RR. The molecular basis of retinoic acid induced night blindness. Biochem Biophys Res Commun. 1989 Jun 15;161(2):825-9. Resumo
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Miopia
- Glaucoma
- Neuropatia óptica
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