Mitochondrial Chronic Progressive External Ophthalmoplegia.

ABSTRACT:

Background

Chronic progressive external ophthalmoplegia (CPEO) is a rare disorder that can be at the forefront of several mitochondrial diseases. This review overviews mitochondrial CPEO encephalomyopathies to enhance accurate recognition and diagnosis for proper management.

Methods

This study is conducted based on publications and guidelines obtained by selective review in PubMed. Randomized, double-blind, placebo-controlled trials, Cochrane reviews, and literature meta-analyses were particularly sought.

Discussion

CPEO is a common presentation of mitochondrial encephalomyopathies, which can result from alterations in mitochondrial or nuclear DNA. Genetic sequencing is the gold standard for diagnosing mitochondrial encephalomyopathies, preceded by non-invasive tests

SUBMITTER: Ali A 

PROVIDER: S-EPMC10887352 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature