Chronic Progressive External Ophthalmoplegia Workup

  • Author: Hampton Roy Sr, MD; Chief Editor: Hampton Roy Sr, MD   more...
 
Updated: Jun 21, 2011
 

Laboratory Studies

Patients with Kearns-Sayre syndrome (KSS) have been reported to have the following:

  • Low magnesium
  • Low parathyroid hormone
  • Increased lactic acid
  • Increased pyruvic acid
  • Increased creatine phosphokinase (CPK)
  • Increased aldolase
  • Increased protein in CSF

Thyroid studies can confirm suspicion of Graves disease.

A positive acetylcholine receptor antibody test may establish the diagnosis of myasthenia gravis. A negative acetylcholine receptor antibody assay does not differentiate chronic progressive external ophthalmoplegia (CPEO) from myasthenia gravis.

Tensilon testing can be helpful in differentiating myasthenia gravis from CPEO. However, the clinician must remain wary of the effects of edrophonium in a patient harboring a possible cardiac conduction defect, that is, KSS.

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Imaging Studies

Magnetic resonance imaging (MRI), computed tomography (CT), and ultrasound may show thin, symmetrical extraocular muscles in CPEO, in contrast to enlarged extraocular muscles sometimes seen with Graves disease.

Patients with CPEO and KSS display a wide spectrum of MRI findings, to include the following:

  • Normal brain
  • Cortical and cerebellar atrophy
  • Increased T2 signal in subcortical cerebral white matter, cerebellar white matter, globi pallidi, thalami, and substantia nigra

A barium swallowing study would be useful to differentiate oculopharyngeal dystrophy.

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Other Tests

Electroretinography and visual-evoked potential testing may be abnormal with or without retinal pigmentary abnormalities. Electroretinography typically shows reduction of oscillatory potentials, scotopic b-wave amplitudes, and photopic b-wave amplitudes. Visual-evoked potential testing abnormalities include p100 latency.

Muscle biopsy is still the definitive test for mitochondrial disorders, but polymerase chain reaction (PCR) testing also has been shown to be conclusive.[7]

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Histologic Findings

Biopsy of muscle with oculopharyngeal dystrophy shows a marked reduction in muscle fibers without the characteristic ragged red fibers seen in mitochondrial disorders due to red-rimmed vacuoles and intranuclear inclusions.

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Contributor Information and Disclosures
Author

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Specialty Editor Board

Edsel Ing, MD, FRCSC  Associate Professor, Department of Ophthalmology and Vision Sciences, University of Toronto Faculty of Medicine; Consulting Staff, Toronto East General Hospital, Canada

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, Canadian Ophthalmological Society, North American Neuro-Ophthalmology Society, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD  Associate Professor 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, American Glaucoma Society, and Association for Research in Vision and Ophthalmology

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.

Lance L Brown, OD, MD  Ophthalmologist, Affiliated With Freeman Hospital and St John's Hospital, Regional Eye Center, Joplin, Missouri

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, and Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author, Tracey A Schmucker, MD, to the development and writing of this article.

References

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

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

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

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

  5. 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.

  6. 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. Jan 15 2011;300(1-2):187-90. [Medline].

  7. 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. Jul 1997;149(1):37-40. [Medline].

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

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

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

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

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

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

  14. Kosmorsky G, Johns DR. Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. Neurol Clin. Feb 1991;9(1):147-61. [Medline].

  15. Phillips CI, Gosden CM. Leber's hereditary optic neuropathy and Kearns-Sayre syndrome: mitochondrial DNA mutations. Surv Ophthalmol. May-Jun 1991;35(6):463-72. [Medline].

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