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Duane retraction syndrome
Congenital form of strabismus was first described by Duane 1905)
Pathology:
- congenital eye movement disorder
- failure of cranial nerve 6 (abducens nerve) to develop normally
Genetics:
- associated with chromosomal translocation t(6;8)(q26;q13) disrupting CPA6 gene
Clinical manifestations:
- bilateral in 20% of cases
- restriction or absence of abduction of eye(s)
- restricted adduction of eye(s)
- narrowing of the palpebral fissure
- retraction of the eye globe on attempted adduction Complication:
- if undiagnosed in children, it can lead to amblyopia
General
genetic syndrome (multisystem disorder)
congenital anomaly (birth defect)
Database Correlations
OMIM 126800
References
OMIM :accession 126800