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A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)
Biomarker and diagnostic research for progressive external ophthalmoplegia has been reported in the published literature.
No clinical trials have been registered for progressive external ophthalmoplegia.
77 publications have been identified in PubMed for progressive external ophthalmoplegia. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (25%), and Epidemiology / Natural History (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 29 | 38% |
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 1:02 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
19 |
25% |
Disease patterns and progression | 14 | 18% |
Research summaries | 8 | 10% |
Testing and diagnosis research | 3 | 4% |
Clinical study results | 2 | 3% |
New treatment approaches | 2 | 3% |
Wang J (2026). [PMID: 41074779](https://pubmed.ncbi.nlm.nih.gov/41074779/). *Clinical genetics*. [Case Report / Case Series]
Pajareeyapong P (2026). [PMID: 41561141](https://pubmed.ncbi.nlm.nih.gov/41561141/). *Neuroimage. Reports*. [Clinical Trial Publication]
Karaa A (2026). [PMID: 40785393](https://pubmed.ncbi.nlm.nih.gov/40785393/). *Clinical genetics*. [Basic Science / Preclinical]
Wang J (2026). [PMID: 41171527](https://pubmed.ncbi.nlm.nih.gov/41171527/). *Acta neurologica Belgica*. [Case Report / Case Series]
Lopriore P (2026). [PMID: 41538773](https://pubmed.ncbi.nlm.nih.gov/41538773/). *Neurology*. [Epidemiology / Natural History]
Mayer D (2026). [PMID: 41766080](https://pubmed.ncbi.nlm.nih.gov/41766080/). *Journal of clinical neuromuscular disease*. [Case Report / Case Series]
Banerjee S (2026). [PMID: 41850596](https://pubmed.ncbi.nlm.nih.gov/41850596/). *Mitochondrion*. [Case Report / Case Series]
Ehrenberg M (2026). [PMID: 41087305](https://pubmed.ncbi.nlm.nih.gov/41087305/). *Ophthalmic genetics*. [Case Report / Case Series]
Martín-Jimenez P (2026). [PMID: 41571587](https://pubmed.ncbi.nlm.nih.gov/41571587/). *Journal of inherited metabolic disease*. [Epidemiology / Natural History]
Lang SH (2026). [PMID: 41610485](https://pubmed.ncbi.nlm.nih.gov/41610485/). *Molecular genetics and metabolism*. [Case Report / Case Series]
AI-curated news mentioning progressive external ophthalmoplegia
Updated Mar 3, 2026
A novel truncating pathogenic variant in the RRM2B gene has been identified in a Kurdish family with autosomal-dominant chronic progressive external ophthalmoplegia plus (PEOA5). This discovery adds to the understanding of genetic factors contributing to this rare disease.