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The Genetics of Strabismus and Associated Disorders 

The Genetics of Strabismus and Associated Disorders
Chapter:
The Genetics of Strabismus and Associated Disorders
Author(s):

Gena Heidary

, Elias I. Traboulsi

, and Elizabeth C. Engle

DOI:
10.1093/med/9780195326147.003.0042
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date: 02 December 2020

Strabismus is the pathologic deviation of one eye with respect to the other, resulting in misalignment of the visual axes and loss of binocular fused vision.1 Normal binocular vision depends on an extremely complex neuronal network of sensory, motor, and integrative pathways, and strabismus can result when these pathways are disturbed by any of a large number of peripheral and central nervous system disorders.2

Although Hippocrates noted a familial tendency for strabismus,3 the precise genetics of the various strabismic disorders has yet to be fully elucidated. This chapter discusses the genetics of isolated concomitant strabismus, Duane syndrome, Möbius syndrome, the fibrosis syndromes, and strabismus associated with neuromuscular diseases. There are, however, greater than 300 inherited disorders with associated strabismus. For many of these disorders, genetic information can be obtained by accessing the computer database OMIM (Online Mendelian Inheritance in Man, part of the Human Genome Data Base Project, Johns Hopkins University, Baltimore, MD) via website gdbwww.gdb.org/omim/docs/omimtop.html and searching by the name of the disorder or by the key word “strabismus.”

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