gms | German Medical Science

102. Jahrestagung der DOG

Deutsche Ophthalmologische Gesellschaft e. V.

23. bis 26.09.2004, Berlin

Differential diagnostic of congenital ocular-motility disorders

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  • corresponding author K. Pollack - Klinik und Poliklinik für Augenheilkunde, Universitätsklinikum Carl Gustav Carus, Dresden

Evidenzbasierte Medizin - Anspruch und Wirklichkeit. 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft. Berlin, 23.-26.09.2004. Düsseldorf, Köln: German Medical Science; 2004. Doc04dogFR.10.04

The electronic version of this article is the complete one and can be found online at:

Published: September 22, 2004

© 2004 Pollack.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.



Congenital ocular-motility disorders result from mechanical disability, ocular nerve palsy or supranuclear disturbances. Congenital ocular-motility disorders, including congenital fibrosis syndromes (CFS), show a change in muscle elasticity. In 1950 Brown described five congenital fibrosis syndromes. He included:

1) typical and atypical horizontal retraction syndrome (Duane syndrome), 2) strabismus fixus, 3) vertical retraction syndrome, 4) superior oblique tendon sheath syndrome (Jaensch-Brown syndrome), and 5) general fibrosis syndrome (CFEOM).

The incidence of Duane retraction syndrome is approximately 1% of the total cases of strabismus. Twenty percent of cases are bilateral. The DRS is genetically heterogen. DRS is characterized by abnormal development of the cells in the abducens nucleus (CN VI), resulting in restricted or absent abduction and erroneous innervation of the lateral rectus by branches emanating from oculomotor nuclei (CN III).

Diagnosis of DRS is not difficult in a typical case, however, children with bilateral abduction deficits which may mimic DRS must be differentiated from the following four motility disorders, namely, abducens nerve palsy, Moebius syndrome, congenital oculomotor apraxia, and congenital or infantile esotropia.

The extraocular fibrosis syndromes arise from dysfunction of the oculomotor, abducens and trochlear nerves and/or the muscles that they innervate. The aetiology of the ocular fibrosis syndromes is a matter of controversy. Many authors have considered, that congenital ocular fibrosis syndrome is a myopathy. In neuropathological and genetical examinations other workers have found a neurogenic aetiology (Engle et al. 1994, 1995, Wang et al. 1998, Nakano et al. 2001, Doherty et al. 1999). Congenital fibrosis syndromes have been described in association with central nervous abnormalities (Pieh et al. 2003).

Diagnostic management must exclude a mitochondriopathy and okulopharyngeal muscle dystrophy.

Management may include analysis of mitochondrical genom, computed tomography from muscles, muscle biopsy and electron microscopic examination.