Ocular torticolis in Down syndrome

Abstract

Objective

To determine the prevalence of torticollis in Down syndrome (DS) patients.

Methods

760 patients with DS underwent a complete eye examination that included visual acuity, ocular motility, refraction and head posture.

Results

Some form of torticollis was present in 75 patients (9.86%). In 80% it was accompanied by chin elevation or head tilt over one or the other shoulder. In 28 patients (37.33%) torticollis was concomitant with nystagmus and 11 cases (14.66%) presented fourth nerve palsy. In 23 patients (30.66%) no eye condition could be found to explain the abnormal head posture.

Conclusions

Torticollis is more common in DS patients than in the general population. Fourth nerve palsy and nystagmus were the most common ocular causes in our group of patients. Some patients appeared to have no ocular causes for their head tilt. Torticollis is not part of the DS phenotype, so its aetiology must be sought.