Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders

Abstract

Some forms of ophthalmoplegia are congenital and fall into the category of Congenital Cranial Dysinnervation Disorders (CCDDs). These disorders arise from a primary defect of cranial nucleus/nerve development or guidance. Many have substantial limitations of ocular motility with or without other associated features. The type and degree of ophthalmoplegia can be similar between CCDD subtypes as well as with non-congenital forms of ophthalmoplegia. Therefore diagnostic confirmation often requires neuro-imaging and/or genetic investigations. The clinician should consider this category in cases of ophthalmoplegia that are congenital and nonprogressive in nature.

Keywords: Congenital cranial dysinnervation disorders; HOXA1 syndrome; Moebius syndrome; congenital; congenital fibrosis of the extraocular muscles; horizontal gaze palsy and progressive scoliosis; ophthalmoplegia.