About Chronic Progressive External Ophthalmoplegia
Chronic progressive external ophthalmoplegia is a mitochondrial myopathy characterised by slowly progressive bilateral ptosis and ophthalmoplegia with preserved pupillary reflexes, caused by dysfunction of the extraocular muscles. It may occur as an isolated condition or as part of broader mitochondrial syndromes such as Kearns-Sayre syndrome. The genetic basis is heterogeneous, involving both primary mtDNA deletions and nuclear gene mutations (most commonly POLG) that cause secondary mtDNA instability.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Chronic Progressive External Ophthalmoplegia trials.
Genetic characterisation is essential: CPEO caused by POLG mutations may have different disease courses and trial eligibility compared to mtDNA deletion forms; pursue comprehensive testing.
Ophthalmological measurements including Hertel exophthalmometry, ocular motility charts, and ptosis grading should be documented at a specialist neuro-ophthalmology centre.
Overlapping features with Kearns-Sayre syndrome should be systematically excluded (cardiac conduction, CSF protein, pigmentary retinopathy) as this affects both diagnosis and applicable trials.
Patient Resources
Natural History Registry
North American Mitochondrial Disease Consortium (NAMDC) Registry
Join registry ↗Find recruiting Chronic Progressive External Ophthalmoplegia trials
Search 500,000+ studies from ClinicalTrials.gov, filtered for Chronic Progressive External Ophthalmoplegia. Updated daily.