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Research Article

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

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Pages 427-437 | Received 30 Apr 2013, Accepted 11 Jul 2013, Published online: 18 Oct 2013
 

Abstract

In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

Notes

*Funding: supported by R01 EY12498 and the Children’s Hospital Ophthalmology Foundation, Boston, MA. ECE is an investigator of the Howard Hughes Medical Institute.

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