Elsevier

Ophthalmology

Volume 103, Issue 9, September 1996, Pages 1508-1511
Ophthalmology

Autosomal-dominant Inheritance of Congenital Superior Oblique Palsy

https://doi.org/10.1016/S0161-6420(96)30475-2Get rights and content

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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Presented in part as a poster at the American Academy of Ophthalmology Annual Meeting, Atlanta, Georgia, Oct/Nov, 1995.

Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc, New York, New York.

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