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  • Title: Autosomal-dominant inheritance of congenital superior oblique palsy.
    Author: Botelho PJ, Giangiacomo JG.
    Journal: Ophthalmology; 1996 Sep; 103(9):1508-11. PubMed ID: 8841314.
    Abstract:
    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.
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