The electroretinogram in the genomics era: outer retinal disorders.

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Inherited retinal diseases (IRDs) were historically diagnosed based on phenotype, but advances now incorporate structural and functional assessments.
• Significant progress in understanding the genetic causes of IRDs has occurred over the last 25 years.
• The current paradigm involves multidisciplinary teams to identify genotypes amenable to gene-directed therapies.

Purpose of the Study:

• To review the physiological basis of the International Society for Clinical Electrophysiology of Vision (ISCEV) standard electrophysiology tests.
• To highlight the role of electrophysiology in localizing functional deficits in IRDs.
• To discuss the correlation of electrophysiology with structural findings for diagnosis and management in the genomic era, focusing on the outer retina.

Main Methods:

• Review of the physiological principles underlying ISCEV standard electrophysiology tests.
• Analysis of electrophysiology's utility in identifying the location of functional impairment in IRDs.
• Examination of the integration of electrophysiological data with structural findings and genetic information.

Main Results:

• Electrophysiology provides crucial functional data to complement structural imaging in IRDs.
• The localization of functional deficits via electrophysiology aids in genotype-specific diagnosis.
• Integration of electrophysiology, structural data, and genomics facilitates precise diagnosis and management strategies.

Conclusions:

• Visual electrophysiology is essential for ophthalmologists to guide geneticists in diagnosing IRDs in the genomic era.
• Understanding the functional deficits through electrophysiology is key to correlating with genetic findings.
• This approach supports the development of targeted gene-directed interventions for IRDs, particularly those affecting the outer retina.