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.^[17]

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.^[17]

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.^[29]

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.^[30]

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.^[31]

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.^[32]

Consultations

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

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.^[17]

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.

It is imperative that patients with chronic progressive external ophthalmoplegia (CPEO) receive regularly scheduled follow-up care in all areas, especially with cardiology, as primary cardiac dysfunction can occur at any time. This dysfunction often can be managed with an artificial pacemaker.

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Media Gallery

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

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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, The Society of Federal Health Professionals (AMSUS)

Disclosure: Nothing to disclose.

Coauthor(s)

Adam J Cohen, MD Physician/CEO, Eyelid and Facial Plastic Surgery and MediSpa; Assistant Professor, Director of Oculoplastic and Reconstructive Surgery, Department of Ophthalmology, 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

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Triad Inc.<br/>Serve(d) as a speaker or a member of a speakers bureau for: Mimedx; InMode.

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 B Ing, MD, PhD, MBA, MEd, MPH, MA, FRCSC Professor, Department of Ophthalmology and Vision Sciences, Sunnybrook Hospital, University of Toronto Faculty of Medicine; Incoming Chair of Ophthalmology, University of Alberta Faculty of Medicine and Dentistry, Canada

Edsel B Ing, MD, PhD, MBA, MEd, MPH, MA, 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 Medical Association, Canadian Ophthalmological Society, Canadian Society of Oculoplastic Surgery, Chinese Canadian Medical Society, European Society of Ophthalmic Plastic and Reconstructive Surgery, North American Neuro-Ophthalmology Society, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Statistical Society of Canada

Disclosure: Nothing to disclose.