Chronic Progressive External Ophthalmoplegia (CPEO)

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Identifier cpeo_Lee
Title Chronic Progressive External Ophthalmoplegia (CPEO)
Subject CPEO; Mitochondria; Ophthalmoplegia; Ptosis
Creator Andrew G. Lee, MD, Chairman, Department of Ophthalmology, The Methodist Hospital, Houston, TX, Professor of Ophthalmology, Weill Cornell Medicine; Vivian Wang, Baylor College of Medicine, Class of 2021
Description Summary • Chronic Progressive External Ophthalmoplegia (CPEO) o Definition -Ophthalmoplegia - two eyes don't move properly -External • Only extraocular muscles (lids and muscles of eye) affected • Intraocular muscles are not affected; pupils are spared -Chronic and progressive o Common presentation -Bilateral external ophthalmoplegia with sparing of pupils that starts in childhood and is progressive o Pathophysiology -Mitochondrial disorder/myopathy -Often associated with retinopathy, cardiac conduction deficits, and other organ system involvement -Kearns-Sayre syndrome = CPEO + retinopathy + cardiac conduction deficits o Diagnosis -Laboratory testing looking for mitochondrial mutation -Because of heteroplasmy, may have to do a muscle biopsy • Look for red ragged fibers (abnormal mitochondrial accumulations) • Can also test mitochondrial enzymes in biopsy o Treatment -No cure -Avoid mitochondrial stressors (smoking, drugs, alcohol) -Mitochondrial cocktail (carnitine, CoQ10, vitamin therapy) -Be aware that CPEO can be associated with cardiac conduction deficits and other organ system involvement
Transcript So today we are going to be talking about chronic progressive external ophthalmoplegia (CPEO). And CPEO is exactly what it sounds like. It's ophthalmoplegia, the two eyes don't move properly. Plegia - paralyze. Ophthalmo- eyes. It's external, which means only the lids and the muscles of the eye, the extraocular muscles, are affected. And in the intraocular muscles, the iris, are not affected. And therefore, the pupil is spared in CPEO. It's not a neurogenic thing, it's the muscle that's the problem It's progressive, and it's chronic. And in fact it can occur from childhood and then just slowly get worse and worse and worse. So, the most common cause of a patient who has bilateral chronic and progressive external ophthalmoplegia is chronic progressive external ophthalmoplegia, abbreviated CPEO. CPEO is often a mitochondrial disorder. It's a mitochondrial myopathy, and it can be associated with a retinopathy and cardiac conduction deficits as well as other involvement of other organ systems. In the old days, we would refer to that complex as the Kearns-Sayre syndrome. The Kearns-Sayre syndrome is the CPEO plus the retinopathy and the cardiac conduction deficits. The way to make the diagnosis is by laboratory testing, looking for the mitochondrial mutation but because of heteroplasmy, we might have to do a muscle biopsy. And traditionally the muscle biopsy is looking for a very specific thing called ragged red fibers, which is actually the abnormal mitochondria accumulating in the muscle biopsy. And we can test the function of the mitochondrial enzymes in this muscle biopsy like cytochrome oxidase. There's no good cure, however we don't normally give some treatments. We try to avoid the mitochondrial stressors- alcohol, smoking, drugs. And we might give the patient a mitochondrial cocktail- carnitine, CoQ10 and vitamin therapy. The most important thing is making sure they're aware that it can affect their heart and cardiac conduction deficits as well as other organ systems. So, if you see a patient who has a chronic and progressive external ophthalmoplegia, a bilateral ophthalmoplegia, a bilateral ptosis with sparing of the internal muscles (the pupil is spared), you should be thinking about CPEO and performing a muscle biopsy. And if it's mitochondrial myopathy, making sure it's not affecting their other organ system but especially, their heart.
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 2019-10
Type Image/MovingImage
Format video/mp4
Rights Management Copyright 2019. For further information regarding the rights to this collection, please visit:
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s66h97zd
Setname ehsl_novel_lee
Date Created 2019-10-10
Date Modified 2020-01-23
ID 1469290
Reference URL
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