The electroretinogram in the genomics era: outer retinal disorders

Elisa E Cornish; Anagha Vaze; Robyn V Jamieson; John R Grigg

doi:10.1038/s41433-021-01659-y

The electroretinogram in the genomics era: outer retinal disorders

Eye (Lond). 2021 Sep;35(9):2406-2418. doi: 10.1038/s41433-021-01659-y. Epub 2021 Jul 7.

Authors

Elisa E Cornish^{1

2

3}, Anagha Vaze^{1

2

3}, Robyn V Jamieson^{2

4

5}, John R Grigg^{6

7

8

9}

Affiliations

¹ 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.
² 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.
³ Sydney Eye Hospital, Sydney, NSW, Australia.
⁴ Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
⁵ Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, Sydney, Australia.
⁶ 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. john.grigg@sydney.edu.au.
⁷ 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. john.grigg@sydney.edu.au.
⁸ Sydney Eye Hospital, Sydney, NSW, Australia. john.grigg@sydney.edu.au.
⁹ Department of Ophthalmology, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, Sydney, Australia. john.grigg@sydney.edu.au.

Abstract

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.

Publication types

Review

MeSH terms

Electroretinography*
Genomics
Genotype
Humans
Retina
Retinal Diseases* / diagnosis
Retinal Diseases* / genetics