Abstract

FR.18.06

Dissecting the clinical phenotype of childhood onset central and global cone, cone-rod, and rod-cone disorders

Lorenz B.
Abteilung für Kinderophthalmologie, Strabismologie und Ophthalmogenetik, Klinikum der Universität Regensburg

Childhood onset central and global cone, cone-rod, and rod-cone disorders comprise stationary dysfunction disorders and progressive dystrophies. Combining a full clinical work-up including colour-vision testing with Ganzfeld electroretinography (ERG) and multifocal ERG (mfERG), optical coherence tomography (OCT) and fundus autofluorescence (FAF) allows to dissect the clinical phenotype for gene-directed molecular genetic testing. Examples will demonstrate the specific and added value of morphology-oriented and functional diagnostic.

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