Electrophysiology in inherited disease

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Abstract

Purpose:

To illustrate the added value of visual electrophysiology in the diagnosis of inherited retinal dystrophies and dysfunctions, and their management in the ophthalmic genetic clinic.

Methods:

A systematic overview with a case presentation format will be used to illustrate different genetically determined retinal dystrophies and dysfunctions. Case descriptions will include clinical and electrophysiological phenotypes as well as genotypes.

Results:

Phenotypes and genotypes of genetically determined retinal diseases are very different, and visual electrophysiology is essential in making a correct diagnosis.

Conclusions:

Taking a thorough history in combination with an extensive clinical examination and psychophysical and electrophysiological tests most often allows a to make a specific diagnosis when dealing with inherited retinal disease. Visual electrophysiology also allows to distinguish between progressive and stationary conditions, and it provides essential information regarding evolution of progressive disease.

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