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chronic_progressive_external_ophthalmoplegia [2026/09/08 12:36] – [Onset and Course] Scott Larsonchronic_progressive_external_ophthalmoplegia [2026/09/08 12:40] (current) – Scott Larson
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 ===== Genetics ===== ===== Genetics =====
  
-  * Most commonly caused by a **single large-scale mtDNA deletion** (sporadic), but also by **mtDNA point mutations** and **nuclear mtDNA-maintenance genes** (e.g., **POLG, RRM2B, TWNK**) ((li))((mcfarland)). +  * Most commonly caused by a **single large-scale mtDNA deletion** (sporadic), but also by **mtDNA point mutations** and **nuclear mtDNA-maintenance genes** (e.g., **POLG, RRM2B, TWNK**). 
-  * **Heteroplasmy** matters: mutant load is far higher in skeletal muscle than in blood, so **negative peripheral blood testing does not exclude CPEO** ((li))((mcfarland)).+  * **Heteroplasmy** matters: mutant load is far higher in skeletal muscle than in blood, so **negative peripheral blood testing does not exclude CPEO**.
  
 ===== Diagnostic Evaluation ===== ===== Diagnostic Evaluation =====
  
-  * **Clinical eye and systemic exam** — motility, lids, pupils, dilated fundus, cardiac review ((mcclelland)). +  * **Clinical eye and systemic exam** — motility, lids, pupils, dilated fundus, cardiac review. 
-  * **Screening labs** — resting/post-exercise lactate and pyruvate, lactate:pyruvate ratio, creatine kinase, glucose/HbA1c; plus **ECG** given conduction-block risk ((gorman)). +  * **Screening labs** — resting/post-exercise lactate and pyruvate, lactate:pyruvate ratio, creatine kinase, glucose/HbA1c; plus **ECG** given conduction-block risk. 
-  * **Exclude mimics** — myasthenia gravis (AChR/MuSK antibodies), oculopharyngeal and myotonic dystrophy ((ng)). +  * **Exclude mimics** — myasthenia gravis (AChR/MuSK antibodies), oculopharyngeal and myotonic dystrophy. 
-  * **Muscle biopsy** (most accurate single test) — **ragged-red fibers** (Gomori trichrome) and **COX-negative / SDH-hyperintense fibers**; also enables respiratory-chain enzyme assays ((rodriguez)). +  * **Muscle biopsy** (most accurate single test) — **ragged-red fibers** (Gomori trichrome) and **COX-negative / SDH-hyperintense fibers**; also enables respiratory-chain enzyme assays. 
-  * **Genetic testing** — whole mtDNA sequencing plus long-range PCR for deletions; **muscle is the optimal tissue**; nuclear gene panels when multiple deletions/depletion or a familial pattern is present ((gorman))((rodriguez)).+  * **Genetic testing** — whole mtDNA sequencing plus long-range PCR for deletions; **muscle is the optimal tissue**; nuclear gene panels when multiple deletions/depletion or a familial pattern is present.
  
 ===== Key Points ===== ===== Key Points =====
  
   * No blood test is confirmatory; diagnosis is **clinical + histochemical + genetic**.   * No blood test is confirmatory; diagnosis is **clinical + histochemical + genetic**.
-  * A **negative blood mtDNA test does not rule out** the disease — proceed to muscle if suspicion is high ((li)). +  * A **negative blood mtDNA test does not rule out** the disease — proceed to muscle if suspicion is high. 
-  * Screen for and monitor **cardiac conduction disease**, a source of preventable morbidity/mortality ((mcfarland)).+  * Screen for and monitor **cardiac conduction disease**, a source of preventable morbidity/mortality.
  
 ====Compare CPEO with Congenital Fibrosis of EOM (CFEOM)==== ====Compare CPEO with Congenital Fibrosis of EOM (CFEOM)====