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The electroretinogram in the genomics era: outer retinal disorders.
Cornish, Elisa E; Vaze, Anagha; Jamieson, Robyn V; Grigg, John R.
Afiliação
  • Cornish EE; Visual Electrophysiology Unit, Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
  • Vaze A; Eye Genetics Research Unit, The Children's Hospital at Westmead, Save Sight Institute, Children's Medical Research Institute, The University of Sydney, Sydney, NSW, Australia.
  • Jamieson RV; Sydney Eye Hospital, Sydney, NSW, Australia.
  • Grigg JR; Visual Electrophysiology Unit, Save Sight Institute, Speciality of Clinical Ophthalmology and Eye Health, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Eye (Lond) ; 35(9): 2406-2418, 2021 09.
Article em En | MEDLINE | ID: mdl-34234290
The inherited retinal diseases (IRDs) have traditionally been described phenotypically with the description evolving to incorporate more sophisticated structural and functional assessments. In the last 25 years there has been considerable advances in the understanding of underlying genetic aetiologies. The role of the ophthalmologist is now to work in a multi-disciplinary team to identify the disease-causing genotype, which might be amenable to gene-directed intervention. Visual electrophysiology is an important tool to assist the ophthalmologist in guiding the clinical geneticist to reach a final molecular diagnosis. This review outlines the physiological basis for the ISCEV standard electrophysiology tests, the role of electrophysiology in localising the functional deficit, correlation with structural findings to guide diagnosis and finally management of IRDs in the era of genomics with emphasis on the outer retina.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Eletrorretinografia Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Eletrorretinografia Idioma: En Ano de publicação: 2021 Tipo de documento: Article