Última revisão: 22 Mai 2021
Última atualização: 18 Fev 2020

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • presença de fatores de risco
  • redução da visão periférica
  • cegueira noturna
  • comprometimento da adaptação ao escuro
  • acuidade central reduzida
  • atrofia do epitélio pigmentar da retina
  • pigmentação em espículas ósseas

Outros fatores diagnósticos

  • nervo óptico pálido em cera
  • fotopsias
  • erro de refração
  • catarata
  • atenuação vascular retiniana
  • edema macular cistoide
  • células vítreas
  • ofuscamento por luzes fortes
  • visão das cores anormal
  • ceratocone
  • glaucoma
  • drusas da cabeça do nervo óptico
  • retinopatia tipo Coats
  • amaurose congênita de Leber

Fatores de risco

  • história familiar
  • presença de uma síndrome associada

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • avaliação da acuidade visual
  • perimetria total
  • eletrorretinograma de campo total

Investigações a serem consideradas

  • limiar elevado final de adaptação ao escuro
  • tomografia de coerência óptica (TCO)
  • teste genético
  • imagiologia óptica adaptativa
  • autofluorescência de campo amplo de fundo do olho

Novos exames

  • sequenciamento completo do exoma

Algoritmo de tratamento

Colaboradores

Mark E. Pennesi

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Declarações

MEP serves on the scientific advisory board and executive committee for the Foundation Fighting Blindness.

Paul Yang

Assistant Professor

Casey Eye Institute

Oregon Health and Sciences University

Portland

OR

Declarações

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.

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. 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.

RevisoresVER TUDO

Consultant Ophthalmologist

Sunderland Eye Infirmary

Sunderland

UK

Declarações

SF declares that he has no competing interests.

Professor of Ophthalmology

Director

Center for Genetic Eye Diseases

Cole Eye Institute

Cleveland Clinic

Cleveland

OH

Declarações

ET declares that he has no competing interests.

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