Kongenitale kraniale Dysinnervationssyndrome (CCDD)

Zusammenfassung

Genetische Untersuchungen in der Augenheilkunde haben in den vergangenen Jahren das Wissen über hereditäre Augenerkrankungen wesentlich erweitert und zu einer auf genetischen Befunden basierenden Neueinteilung einer Reihe von Krankheitsbildern geführt. Die früher als „kongenitale Fibrosesyndrome“ bezeichneten Schielsyndrome, welche durch eine nicht progrediente restriktive Störung der Okulomotorik mit oder ohne zusätzliche Oberlidptosis gekennzeichnet sind, werden nun unter dem Begriff „Congenital Cranial Dysinnervation Disorders“ (CCDDs) zusammengefasst. Die ursächliche Störung liegt in einer fehlerhaften Innervation der Muskeln aufgrund einer Fehlentwicklung der Kerngebiete der entsprechenden Hirnnerven im Hirnstamm und Pons, und nicht – wie früher angenommen – in einer primären Fibrose der extraokularen Muskeln. In dieser Arbeit werden die kongenitale Fibrose der äußeren Augenmuskeln (CFEOM), das Duane-Syndrom, die horizontale Blickparese mit progredienter Skoliose, die kongenitale Ptosis und das Möbius-Syndrom vorgestellt sowie Grundzüge intrazellulärer Transportmechanismen und der Kinesine erläutert.

Abstract

Knowledge about hereditary eye diseases has been substantially increased by means of genetic testing during the last decade. This has resulted in a new classification of a number of disease patterns, which are characterised by non-progressive restrictive disorders of the oculomotor system, formerly classified as “congenital fibrosis syndromes”. Based on the results of genetic testing, these ocular motility disorders are now referred to as “congenital cranial dysinnervation disorders” (CCDDs). They are caused by an impaired innervation of extraocular muscles because of a dysgenesis of the nuclei of the affected cranial nerves in the brainstem and pons and not by primary fibrosis of the extraocular muscles. In this review, congenital fibrosis of the extraocular muscles (CFEOM), Duane syndrome, horizontal gaze palsy with progressive scoliosis, congenital ptosis and Moebius syndrome are presented and basic principles of intracellular transport mechanisms and kinesins are discussed.

Schlüsselwörter

Genetik - Strabologie - kongenitale kraniale Dysinnervationssyndrome - CFEOM - Duane-Syndrom - Kinesine

Key words

genetics - strabism - congenital cranial dysinnervation disorders - CFEOM - Duane syndrome - kinesins

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