eMedicine Specialties > Ophthalmology > Neurologic Disorders

Chronic Progressive External Ophthalmoplegia: Differential Diagnoses & Workup

Author: Hampton Roy Sr, MD, Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences
Contributor Information and Disclosures

Updated: Dec 5, 2008

Differential Diagnoses

Botulism
Myasthenia Gravis
Sarcoidosis
Thyroid Ophthalmopathy

Other Problems to Be Considered

Oculopharyngeal muscular dystrophy
Orbital pseudotumor
Bilateral pupil sparing third nerve palsy
Vitamin E deficiency: abetalipoproteinemia
Cholestatic liver disease with impaired secretion of bile salts
Bowel resection
Amyloidosis with bilateral orbital infiltration
Myotonic dystrophy
Miller-Fisher variant of Guillain-Barré syndrome
Congenital acetylcholinesterase deficiency

Workup

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.

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.

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.

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.

More on Chronic Progressive External Ophthalmoplegia

Overview: Chronic Progressive External Ophthalmoplegia
Differential Diagnoses & Workup: Chronic Progressive External Ophthalmoplegia
Treatment & Medication: Chronic Progressive External Ophthalmoplegia
Follow-up: Chronic Progressive External Ophthalmoplegia
Multimedia: Chronic Progressive External Ophthalmoplegia
References
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References

  1. 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.

  2. 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].

  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. 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].

  5. 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].

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

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

  8. 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].

  9. 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].

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

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

  12. 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].

  13. 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].

  14. 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].

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Further Reading

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Keywords

chronic progressive external ophthalmoplegia, CPEO, abiotrophic ophthalmoplegia, CPEO with ragged red fibers, oculocraniosomatic neuromuscular disease, ocular myopathy, Olson disease, Kearns-Sayre-Daroff syndrome, Kearns-Sayre syndrome, progressive external ophthalmoplegia plus, extraocular muscle paralysis

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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.

Medical Editor

Edsel Ing, MD, FRCSC, Assistant Professor, Department of Ophthalmology & Vision Sciences, University of Toronto: Consulting Staff, Toronto East General Hospital
Edsel Ing, MD, FRCSC is a member of the following medical societies: American Academy of Ophthalmology, American College of Physician Executives, American Society of Contemporary Ophthalmology, Canadian Ophthalmological Society, Contact Lens Association of Ophthalmologists, North American Neuro-Ophthalmology Society, and Royal College of Physicians and Surgeons of Canada
Disclosure: Nothing to disclose.

Pharmacy Editor

Simon K Law, MD, PharmD, Assistant Professor of Ophthalmology, Jules Stein Eye Institute; Chief of Section of Ophthalmology Surgical Services, Department of Veterans Affairs Healthcare Center, West Los Angeles
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.

Managing Editor

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.

CME Editor

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

James P Gills, MD, Founder, St Luke's Cataract and Laser Institute; Professor, Department of Ophthalmology, University of South Florida College of Medicine
James P Gills, MD is a member of the following medical societies: American Academy of Ophthalmology
Disclosure: Nothing to disclose.

 
 
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