Botelho PJ. Giangiacomo JG.
Mason Institute of Ophthalmology, University of Missouri-Columbia 65212, USA.
Autosomal-dominant inheritance of congenital superior oblique palsy.
Ophthalmology. 103(9):1508-11, 1996 Sep.
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.