Chronic Progressive External Ophthalmoplegia Treatment & Management
- Author: Michael Mercandetti, MD, MBA, FACS; Chief Editor: Hampton Roy, Sr, MD more...
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.
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.
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.
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.
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.
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.
Kearns-Sayre syndrome (KSS) is a complex disorder requiring the involvement of physicians from various specialties, including neurology, cardiology, ophthalmology, and endocrinology.
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.
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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