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Chronic Progressive External Ophthalmoplegia Treatment & Management

  • Author: Michael Mercandetti, MD, MBA, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
 
Updated: Jun 20, 2016
 

Approach Considerations

As mitochondria are the power source for cells, dysfunction is most manifest in organs and systems that use high oxidative phosphorylation activity, including the brain and neurological pathways, the heart, the muscles, and the lungs.[8]

Individuals with mitochondrial disease, whether children or adults, may be asymptomatic. Others may have variable symptoms, including stroke, seizures, gastrointestinal (GI) manifestations (reflux, severe vomiting, constipation, diarrhea), difficulties with swallowing, failure to thrive, blindness, deafness, cardiac and renal manifestations, muscle failure, cold/heat intolerance, diabetes, lactic acidosis, manifestations of the immune system, and hepatic disease.[8]

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Medical Care

Several small studies have shown evidence of clinical improvement in patients treated with CoQ10. A decrease in serum levels of pyruvate and lactate were observed, and general neurologic function was noted to improve.[13]

For ptosis, adhesive tape and lid crutches can be used to assist patients with advanced chronic progressive external ophthalmoplegia (CPEO). A case study involving a patient with exposure keratopathy after previously unsuccessful lid surgery discusses successful treatment with a combination spectacle-mounted lid crutch and moisture chamber.[14]

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Surgical Care

Bell phenomenon is absent in many patients with CPEO; therefore, ptosis surgery often is contraindicated. Because a silicone sling is reversible, it could be a possibility for some patients.[15]

Patients with oculopharyngeal dystrophy who experience severe dysphagia may be treated with cricopharyngeal myotomy, but a gastrostomy tube often is more practical.

Strabismus surgery can be helpful in carefully selected patients if diplopia occurs and the patient has had a stable deviation for several months.[16]

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Consultations

Kearns-Sayre syndrome (KSS) is a complex disorder requiring the involvement of physicians from various specialties, including neurology, cardiology, ophthalmology, and endocrinology.

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Complications

Individuals with mitochondrial disease are vulnerable to complications from other illnesses, although these may not pose significant problems in some persons with mitochondrial disease. The highest degree of vulnerability occurs during the duration of the coincident illness and for approximately two weeks thereafter.[8]

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Long-Term Monitoring

Mitochondrial disease that becomes symptomatic in the teenaged or early adult years can be devastating. An otherwise healthy child can progress from normal functionality to impairment, possibly severe enough to result in death.

Genetic counseling is necessary in carrier families to ascertain the risks; however, as the disorders result from a complex array of mitochondrial and even nuclear genotypic errors and can have such a diverse presentation phenotypically, genetic testing cannot always predict the outcome.

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Contributor Information and Disclosures
Author

Michael Mercandetti, MD, MBA, FACS Private Practice

Michael Mercandetti, MD, MBA, FACS is a member of the following medical societies: American Academy of Facial Plastic and Reconstructive Surgery, Sarasota County Medical Society, American Academy of Ophthalmology, American College of Surgeons, American Society for Laser Medicine and Surgery, American Society of Ophthalmic Plastic and Reconstructive Surgery, Association of Military Surgeons of the US

Disclosure: Nothing to disclose.

Coauthor(s)

Adam J Cohen, MD Assistant Professor of Ophthalmology, Section Director of Oculoplastic and Reconstructive Surgery, Rush Medical College of Rush University Medical Center

Adam J Cohen, MD is a member of the following medical societies: American Academy of Ophthalmology, American Society of Ophthalmic Plastic and Reconstructive Surgery, American College of Surgeons

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: BioD, Poferious<br/>Serve(d) as a speaker or a member of a speakers bureau for: IOP<br/>Received income in an amount equal to or greater than $250 from: IOP for speaking.

Specialty Editor Board

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Chief Editor

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Additional Contributors

Edsel Ing, MD, FRCSC Associate Professor, Department of Ophthalmology and Vision Sciences, University of Toronto Faculty of Medicine; Consulting Staff, Hospital for Sick Children and Sunnybrook Hospital

Edsel Ing, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American Association for Pediatric Ophthalmology and Strabismus, American Society of Ophthalmic Plastic and Reconstructive Surgery, Royal College of Physicians and Surgeons of Canada, Canadian Ophthalmological Society, North American Neuro-Ophthalmology Society, Canadian Society of Oculoplastic Surgery, European Society of Ophthalmic Plastic and Reconstructive Surgery, Canadian Medical Association, Ontario Medical Association, Statistical Society of Canada, Chinese Canadian Medical Society

Disclosure: Nothing to disclose.

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Acknowledgements

Tracey A Schmucker, MD Ophthalmologist, Private Practice

Disclosure: Nothing to disclose.

Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

References
  1. Chinnery PF. Mitochondrial Disorders Overview. GeneReviews® [Internet]. Available at http://www.ncbi.nlm.nih.gov/books/NBK1224/. August 14, 2014; Accessed: June 19.2016.

  2. Bresolin N, Bet L, Binda A, et al. Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology. 1988 Jun. 38(6):892-9. [Medline].

  3. Chen T, Pu C, Shi Q, Wang Q, Cong L, Liu J, et al. Chronic progressive external ophthalmoplegia with inflammatory myopathy. Int J Clin Exp Pathol. 2014. 7 (12):8887-92. [Medline].

  4. Ogasahara S, Nishikawa Y, Yorifuji S, et al. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology. 1986 Jan. 36(1):45-53. [Medline].

  5. Carlow TJ, Depper MH, Orrison WW Jr. MR of extraocular muscles in chronic progressive external ophthalmoplegia. AJNR Am J Neuroradiol. 1998 Jan. 19(1):95-9. [Medline].

  6. Ohnuki Y, Takahashi K, Iijima E, Takahashi W, Suzuki S, Ozaki Y, et al. Multiple deletions in mitochondrial DNA in a patient with progressive external ophthalmoplegia, leukoencephalopathy and hypogonadism. Intern Med. 2014. 53 (12):1365-9. [Medline].

  7. Kiyomoto BH, Tengan CH, Moraes CT, et al. Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. J Neurol Sci. 1997 Nov 25. 152(2):160-5. [Medline].

  8. Understanding Mitochondrial Disease. United Mitochondrial Disease Foundation. Available at http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934639. Accessed: 6/19/2016.

  9. Ahn J, Kim NJ, Choung HK, et al. Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia. Br J Ophthalmol. Sept 11,2008.

  10. Souilem S, Chebel S, Mancuso M, et al. A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. J Neurol Sci. 2011 Jan 15. 300(1-2):187-90. [Medline].

  11. Domenis DR, Granzotti RB, Sobreira CF, Dantas RO. Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. Int J Speech Lang Pathol. 2015 Aug. 17 (4):384-9. [Medline].

  12. De Coo IF, Gussinklo T, Arts PJ, et al. A PCR test for progressive external ophthalmoplegia and Kearns-Sayre syndrome on DNA from blood samples. J Neurol Sci. 1997 Jul. 149(1):37-40. [Medline].

  13. Peterson PL. The treatment of mitochondrial myopathies and encephalomyopathies. Biochim Biophys Acta. 1995 May 24. 1271(1):275-80. [Medline].

  14. Cohen JM, Waiss B. Combination ptosis crutch and moisture chamber for management of progressive external ophthalmoplegia. J Am Optom Assoc. 1997 Oct. 68(10):663-7. [Medline].

  15. Soejima K, Sakurai H, Nozaki M, et al. Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. Ann Plast Surg. 2006 Apr. 56(4):439-42. [Medline].

  16. Wallace DK, Sprunger DT, Helveston EM, et al. Surgical management of strabismus associated with chronic progressive external ophthalmoplegia. Ophthalmology. 1997 Apr. 104(4):695-700. [Medline].

  17. Ewart RM, Burrows RF. Pregnancy in chronic progressive external ophthalmoplegia: a case report. Am J Perinatol. 1997 May. 14(5):293-5. [Medline].

  18. Fraunfelder FT, Roy FH, Randall J. Chronic progressive external ophthalmoplegia. Current Ocular Therapy. 5th ed. 2000. 208-210.

  19. Galetta F, Franzoni F, Mancuso M, Orsucci D, Tocchini L, Papi R, et al. Cardiac involvement in chronic progressive external ophthalmoplegia. J Neurol Sci. 2014 Oct 15. 345 (1-2):189-92. [Medline].

  20. Progressive external ophthalmoplegia. NIH U.S. National Library of Medicine. Genetics Home Reference. Available at https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia. May 2016; Accessed: June 7, 2016.

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This table outlines the differential diagnoses of chronic progressive external ophthalmoplegia.
 
 
 
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