PURPOSE Hyperactivating CHN1 mutations have been described in individuals with Duane retraction syndrome with or without vertical gaze abnormalities. This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation. METHODS Participating members of a family segregating pleomorphic incomitant strabismus underwent...

Many papers have reported that motion perception asymmetry (MPA) is replaced by motion perception symmetry (MPS) by the 4th to 5th month after birth, when stereopsis starts to occur in normal infants. Duane's syndrome is a congenital motor abnormality, it does, however, reportedly show good stereopsis. We confirmed the stereopsis in Duane's syndrome and checked the motion perception (MP) by usi...

BACKGROUND Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder. ...

PURPOSE To evaluate the efficacy of botulinum toxin injection in the patients with type 1 Duane syndrome and identify the predictive factors for success. METHODS Sixteen patients with esotropic type 1 Duane syndrome without history of ocular surgery were selected for this interventional case series. The botulinum toxin was injected in the medial rectus of all patients. Visual acuity, dry refr...

OBJECTIVE To report that maximum weakening of lateral rectus muscles can improve significant exotropia in primary position, abnormal head posture, retraction, narrowing of palpebral fissure and downshoot in exotropic duannes retraction syndrome. CASE A 12-year-old boy with exotropic Duane syndrome presented with downshoot and globe retraction in attempted adduction. Squint surgery was underta...