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

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).

• Congenital cranial dysinnervation disorders
• congenital fibrosis of the extraocular muscles
• Duane syndrome
• horizontal gaze palsy with progressive scoliosis
• HOXA1
• HOXB1
• incomitant strabismus
• Moebius syndrome

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.