Electrophysiology in inherited disease

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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.


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.


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


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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