Chronic progressive external ophthalmoplegia

Abstract

AbstractChronic progressive external ophthalmoplegia (CPEO) is an array of genetic condition which causes progressive paralysis of the extraocular muscles and lid ptosis. CPEO can occur in isolation or in association with other systemic features (CPEO‐plus) including myopathy, dysarthria, ataxia, and parkinsonism. The condition can be part of a neurological syndrome such as Kern‐Sayre Syndrome (KSS), were pigmentary retinopathy, cerebellar ataxia, heart block and/or elevated CSF protein occur in addition to progressive external ophthalmoplegia.The condition is caused by disfunction of oxidative phosphorylation and several genes in both the mitochondrial DNA and nuclear DNA have been demonstrated to cause CPEO. This results in a varied inheritance pattern, depending on the gene involved in the individual pedigree.Clinically, most patients with CPEO develop a progressive symmetrical external ophthalmoplegia and thus do not typically experience diplopia. If diplopia is present, however, it can usually be managed by prism lenses although some patients do require surgical correction. This contrasts with the clinically significant ptosis, which typically requires surgical correction.In this session we will review the clinical features and the genetic variants associated with CPEO along with the clinical management and pitfalls in caring for patient with CPEO.