Chronic Progressive External Ophthalmoplegia - A Common Ocular Manifestation of Mitochondrial Disorders.
In: Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics (978-3-540-33678-5); 2008, p267-282, 16p
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■ Extraocular muscles are predominantly affected in mitochondrial myopathies resulting in chronic progressive external ophthalmoplegia (CPEO). ■ CPEO is one of the most common manifestations of mitochondrial disorders and can present as an isolated disorder or as part of syndromes with multisystemic involvement. Frequently patients suffer from exercise intolerance or proximal limb weakness. ■ The underlying pathomechanisms are alterations of the respiratory chain due to mutations in mitochondrial or nuclear DNA. ■ There are different modes of inheritance but sporadic occurrence is frequent. ■ Diagnosis usually necessitates a limb muscle biopsy. ■ There is limited causal therapy but there are several symptomatic treatments. Frontalis suspension is the method of first choice for ptosis surgery. ■ Important differential diagnoses are oculopharyngeal muscular dystrophy and myasthenia. [ABSTRACT FROM AUTHOR]
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Titel: |
Chronic Progressive External Ophthalmoplegia - A Common Ocular Manifestation of Mitochondrial Disorders.
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Autor/in / Beteiligte Person: | Lorenz, Birgit ; Borruat, Francois-Xavier ; Deschauer, Marcus ; Zierz, Stephan |
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Quelle: | Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics (978-3-540-33678-5); 2008, p267-282, 16p |
Veröffentlichung: | 2008 |
Medientyp: | Buch |
ISBN: | 978-3-540-33678-5 (print) |
DOI: | 10.1007/978-3-540-33679-2_15 |
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