(CPEO) Chronic progressive external ophthalmoplegia

This term describes a series of myopathies affecting extraocular muscles (EOMs), often manifesting as bilateral ptosis and ophthalmoplegia, often with onset of symptoms in the third or fourth decade, with slow progression. [1] It is associated with mitochondrial DNA mutations – deletions and point mutation in nuclear DNA. 

It is associated with mitochondrial disorders and can either appear isolated or amongst other symptoms. If isolated, it could be inherited through autosomal dominant, autosomal recessive or maternal transmission. 

CPEO can sometimes be difficult to diagnose, but critical to differentiate. 

 

Symptoms 

  • bilateral, symmetric, painless ptosis 
  • diplopia, strabismus, amblyopia
  • ophthalmoplegia. 
  • eyelid droop 
  • pigmentary retinopathy and optic atrophy.
  • sensorineural hearing loss 
  • dysphagia.

When there are other manifestations and not isolated, other symptoms are dementia, parkinsonism, ataxia, myoclonus, dysarthia, bulbar weakness, seizures, polyneuropathy, hypogonadism, hepatic failure. 

 

Diagnosis

  • neuroimaging – orbital CT imaging/MRI
  • blood and cerebrospinal fluid lactate tests
  • electromyography
  • Detailed family 
  • physical exam, 
  • electroretinogram
  • genetic testing
  • muscle biopsy

 

Management 

There is no cure for CPEO or its associated syndromes. It is symptomatic and the improvement of the quality of life is note worthy. 

  • Prism lenses for diplopia 
  • surgical correction of ptosis

Useful link

https://rarediseases.info.nih.gov/diseases/4503/chronic-progressive-external-ophthalmoplegia

 

Support Groups 

  1. https://www.mitoaction.org/
  2. https://www.umdf.org/

 

References 

  1. McClelland C, Manousakis G, Lee MS. Progressive External Ophthalmoplegia. Curr Neurol Neurosci Rep. 2016;16(6):53.
  2. Naomi Hasegawa, Ashwini Kini, MD, Andrew Go Lee, MD, Bayan Al Othman, MD, Ashwini Kini, MD, Claudia Prospero Ponce, MD and David Plemel, MD, Chronic Progressive External Ophthalmoplegia (CPEO) 2020. Available at: https://eyewiki.aao.org/w/index.php?title=Chronic_Progressive_External_Ophthalmoplegia_(CPEO)&printable=yes
  3. Lee AG, Brazis PW. Chronic progressive external ophthalmoplegia. Curr Neurol Neurosci Rep. 2002;2(5):413-417. 
  4. Mark Tarnopolsky, Chapter 6 – Chronic Progressive External Ophthalmoplegia (CPEO), Editor(s): Russell P. Saneto, Sumit Parikh, Bruce H. Cohen, Mitochondrial Case Studies, Academic Press, 2016. 
  5. DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol. 2013;9(8):429-444.
  6. Heighton JN, Brady LI, Sadikovic B, Bulman DE, Tarnopolsky MA. Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. Mitochondrion. 2019;49:227-231.
  7. Heighton JN, Brady LI, Newman MC, Tarnopolsky MA. Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. Mitochondrion. 2019;44:15-19.
  8. Takahashi Y, Leibovitch I, Kakizaki H. Frontalis suspension surgery in upper eyelid blepharoptosis. Open Ophthalmol J. 2010;4:91-97.

 

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