Clinicogenetical Variants of Progressive External Ophthalmoplegia - an Especial Review of Non-Ophthalmic Manifestations Publisher Pubmed



Maghbooli M¹ ; Ghaffarpour M² ; Ghazizadeh T¹ ; Shalbaf N¹ ; Malekmahmoudi G¹
Source: Neurology India Published:2020

Abstract

Progressive external ophthalmoplegia (PEO) is a slowly progressive myopathy characterized by extraocular muscles involvement, leading to frozen eyes without diplopia. The pattern of inheritance may be mitochondrial, autosomal dominant or, rarely, autosomal recessive. Sporadic forms were also reported. Muscular involvement other than extraocular muscles may occur with varying degrees of weakness, but this mostly happens many years after the disease begins. There are also scattered data about systemic signs besides ophthalmoplegia. This article aims to review non-ophthalmic findings of PEO from a clinicogenetical point of view. © 2020 Wolters Kluwer Medknow Publications. All rights reserved.