Duane retraction syndrome

Introduction

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

More general terms

• genetic syndrome (multisystem disorder)
• congenital anomaly (birth defect)

Database

• OMIM: https://mirror.omim.org/entry/126800