Duane retraction syndrome

Also known as: Duane syndrome; Stilling–Türk–Duane syndrome

Congenital limited abduction with globe retraction on adduction.

Medical specialty: Ophthalmology
Subspecialty: Ophthalmology / Strabismus and neuro-ophthalmology
Sex & age distribution: Male: affected; Female: affected, female predominance (60%); Children: yes, congenital
Gene(s) involved: CHN1, HOXA1, MAFB, SALL4

Etiology & mechanism

Absent or hypoplastic abducens nucleus with aberrant innervation of lateral rectus by oculomotor nerve.

Gene(s) involved (4)

CHN1HOXA1MAFBSALL4

Symptoms & signs (6)

amblyopiaglobe retractionhead turnlimited abductionpalpebral fissure narrowingupshoot or downshoot

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.