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September 1971

Congenital Hereditary Nonprogressive External Ophthalmoplegia

Author Affiliations

Denver; USN; USN; USN, San Diego, Calif
From the Department of Pediatrics, University of Colorado Medical Center, Denver (Dr. Mace); the departments of Ophthalmology, (LCDR Sponaugle) and pediatrics (CDR Schanberger), Naval Hospital, San Diego, Calif.

Am J Dis Child. 1971;122(3):261-263. doi:10.1001/archpedi.1971.02110030119022

In a pedigree in which seven members had congenital ptosis, myopia, and varying degrees of fixed gaze, transmission of the condition from parent to offspring over three generations suggested dominant inheritance. The disorder remains static and is not associated with a generalized progressive muscular or neurological degneration as is seen in "progressive external ophthalmoplegia," which is transmitted as an autosomal dominant trait. Congenital hereditary nonprogressive external ophthalmoplegia should be recognized by the pediatrician as a rare, but benign disorder which usually does not interfere with a normal life. The condition differs so strikingly from other disorders associated with congenital ptosis and external ophthalmoplegia that there should be little difficulty in making the diagnosis.