Congenital Fibrosis of the Extraocular Muscles

Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.
Seminars in Ophthalmology (Impact Factor: 0.86). 08/2009; 23(1):3-8. DOI: 10.1080/08820530701745181
Source: PubMed


Congenital fibrosis of the extraocular muscles (CFEOM) is a strabismus syndrome characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Three clinical phenotypes for familial CFEOM (CFEOM1, 2, and 3) have been delineated, for which two genes have been identified to date: KIF21A for CFEOM1 and 3 and PHOX2A/ARIX for CFEOM2. Insights gained from molecular genetics have strengthened the hypothesis that CFEOM results from the dysinnervation of the extraocular muscles supplied by the oculomotor and/or trochlear nerves. Continued study of this syndrome should help to further elucidate the pathogenesis of eye movement disorders.

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    ABSTRACT: • Congenital cranial dysinnervation disorders (CCDDs) are a group of neurodevelopmental diseases of the brainstem and the cranial nerves. • Endogenic or exogenic disturbances lead to a primary dysinnervation of structures supplied by cranial nerves. Motility disturbances and potentially structural changes occur. • Secondary dysinnervation occurs if fibers of other cranial nerves innervate the primarily misinner-vated structures. Synkinetic movements or cocontractions of antagonists result and may lead to structural changes in the muscles involved. • Neurogenetic studies proved congenital fibrosis of the extraocular muscles (CFEOM), isolated and syndromic forms of Duane syndrome and horizontal gaze palsy with progressive scoliosis (HGPPS) to be related to mutations in genes that play a role in brainstem and cranial nerve development. • By clinical features and theoretic considerations some forms of congenital ptosis, congenital fourth nerve palsy, Möbius syndrome and Marcus Gunn jaw winking phenomenon are understood as CCDDs. • Other congenital disturbances of ocular motility with fibrotic features such as congenital Brown syndrome, congenital monocular elevation palsy and vertical retraction syndrome may be discussed as CCDDs.
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