Congenital absence of the superior oblique tendon.

Congenital absence of the superior oblique tendon occurred in 18% of patients with a diagnosis of congenital superior oblique palsy who were treated with an attempt at a tuck of the superior oblique tendon. The presence of horizontal strabismus and amblyopia in a patient with diagnosis of congenital superior oblique palsy should raise the possibility of absence of this tendon. Absence of the superior oblique tendon can be treated successfully with weakening of the antagonist inferior oblique, and either recession of the yoke inferior rectus or the ipsilateral superior rectus. The horizontal deviation can be treated with appropriate recession and resection of the horizontal recti.

Autosomal-dominant inheritance of congenital superior oblique palsy.

PURPOSE: A pedigree comprised of five affected members is presented to demonstrate the genetic transmission of congenital superior oblique palsy. METHODS: A 2-year-old boy referred for strabismus was found to have bilateral congenital superior oblique palsy. The authors subsequently performed a complete ophthalmologic examination on all available family members to determine the inheritance pattern. The diagnosis of congenital superior oblique palsy was based on results of prism cover testing, ductions, and the Bielschowsky head tilt test, in addition to a history of early onset of symptoms and absence of preceding head trauma. RESULTS: The father, paternal grandfather, and a brother of the 2-year-old boy were found to have bilateral congenital superior oblique palsy. Evaluation of the paternal aunt showed right congenital superior oblique palsy. Bilateral absence of the superior oblique tendon was noted at the time of surgery in the 2-year-old boy. CONCLUSION: The occurrence of genetic transmission by an autosomal-dominant mode should be considered in patients with congenital superior oblique palsy.