MR imaging of familial superior oblique hypoplasia

Abstract

Background: Congenital superior oblique palsy is usually associated with a structural abnormality of the superior oblique tendon. There have been many reports of familial congenital superior oblique palsy. However, there has been no MRI documentation of familial superior oblique hypoplasia. Methods: Ophthalmological examination and orbital MRI were performed in three patients in a pedigree with familial superior oblique palsy. They showed typical signs of superior oblique palsy, including superior oblique underaction and overelevation in adduction on the affected side, torticollis in the early part of life, and positive head tilt testing. Results: Moderate to severe superior oblique hypoplasia was identified in all three affected family members. Conclusion: Superior oblique hypoplasia confirmed with MRI was useful for clarifying the aetiology of familial superior oblique palsy.