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Chronic Progressive External Ophthalmoplegia (CPEO)
Strabismus
Key Points
- •CPEO is a mitochondrial myopathy caused by mtDNA deletions or point mutations, presenting with slowly progressive bilateral symmetric ptosis + ophthalmoplegia + orbicularis weakness; diplopia is typically absent
- •Muscle biopsy shows ragged red fibres (Gomori trichrome) and COX-negative/SDH-positive blue fibres (the most specific finding); the common deletion is the 4977 bp mtDNA deletion
- •Kearns-Sayre syndrome: CPEO + onset <20 years + pigmentary retinopathy + cardiac conduction block/CSF protein >100 mg/dL (>1 g/L)/cerebellar ataxia; cardiac death is the leading cause of mortality
- •Annual ECG is mandatory for all CPEO patients to screen for cardiac conduction defects; prophylactic pacemaker in KSS with progressive conduction disease
- •Frontalis sling is the preferred ptosis surgery (levator function is poor); under-correct to avoid corneal exposure from orbicularis weakness; expect recurrence
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17 more sections are included with the Clinical plan.
- Definition
- Epidemiology
- Aetiology and causes
- Pathogenesis
- Classification
- Risk factors and associations