Abstract
Congenital cranial dysinnervation disorders (CCDDs) are congenital non-progressive disorders of ocular motility that result from absence of normal innervation and possible secondary dysinnervation. They result from mutations affecting ocular motility genes and hence present often to ophthalmologists. Important CCDDs include congenital fibrosis of extraocular muscles (CFEOM), Duane retraction syndrome (DRS), horizontal gaze palsy with progressive scoliosis (HGPPS), Brown syndrome, congenital trochlear nerve palsy, and Möbius syndrome. Currently at least eight different pathogenic genes and ten phenotypes have been identified. However, many of them can have associated systemic and/or neurological abnormalities.
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