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).
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Duane Retraction Syndrome / genetics*
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Eye Diseases, Hereditary / genetics
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Fibrosis
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Homeodomain Proteins / genetics
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Humans
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Mobius Syndrome / genetics*
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Ophthalmoplegia
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Ophthalmoplegia, Chronic Progressive External / genetics*
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Scoliosis / genetics*
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Strabismus / genetics*
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Transcription Factors / genetics
Substances
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HOXB1 homeodomain protein
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Homeodomain Proteins
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Transcription Factors
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homeobox A1 protein
Supplementary concepts
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Congenital Fibrosis of the Extraocular Muscles
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Gaze Palsy, Familial Horizontal, with Progressive Scoliosis