Chronic Progressive External Ophthalmoplegia - Introduction

Introduction

CPEO is a rare disease that may affect those of all ages, but typically manifests in the young adult years. CPEO is the most common manifestation of mitochondrial myopathy, occurring in an estimated two-thirds of all cases of mitochondrial myopathy. Patients typically present with ptosis (drooping eyelids). Other diseases like Graves' disease, myasthenia gravis and glioma that may cause an external ophthalmoplegia must be ruled out.

While progressive external ophthalmoplegia may be a symptom of numerous diseases, we will be focusing on CPEO as the primary disease state caused by mitochondrial abnormalities. Kearns-Sayre syndrome (KSS), which at times is referred to as a severe form of CPEO with pigmentary retinopathy and complete heart block and occurs before the age of 20.

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