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Chronic Progressive External Ophthalmoplegia

Correspondence: Requests for reprints should be addressed to: Jacqueline W. Shimko, C.O., Dept. of Ophthalmology and Visual Sciences, University of Wisconsin, 2880 University Ave., Rm. 212, Madison, WI 53705.

Introduction: Credit for the first description in the literature regarding chronic progressive external ophthalmoplegia is generally attributed to von Graefe in 1868. Chronic progressive external ophthalmoplegia (CPEO) is a disorder that leads to complete immobility of the eyes. While CPEO may occur as an isolated entity, it is now recognized to be associated with a host of systemic disorders in particular, mitochondrial dysfunction.

Purpose: A review of the clinical characteristics and the current understanding of the biochemical and genetic features of CPEO in systemic disease is presented.

Conclusion: Patients with CPEO may present with ptosis, or diplopia and strabismus as the presenting symptom of their systemic, sometimes life threatening, disease. Surgical treatment for the strabismus or ptosis may be performed to provide symptomatic relief. Advances in biochemical and genetic testing have led to the identification of numerous mitochondrial and genetic defects.

Key words: chronic progressive external ophthalmoplegia, CPEO, Kearns-Sayre syndrome