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M.B. Strominger, M.M. Joshi, N. Laver, L.S. Adelman; Isolated mitochondrial myopathy diagnosed on extraocular muscle biopsy . Invest. Ophthalmol. Vis. Sci. 2004;45(13):5004.
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Purpose: To report a rare case of a mitochondrial myopathy presenting with ophthalmoplegia and diagnosed solely on extraocular muscle biopsy during strabismus repair. Methods: A 47 year old woman presented with progressive exotropia and bilateral ptosis. Results: On examination she had bilateral ptosis, a 50 prism diopter exotropia in primary position, and an almost complete bilateral horizontal and upgaze ophthalmoplegia. She subsequently underwent a right lateral rectus recession and medial rectus resection. Electron microscopy of the resected muscle revealed sections of massive sarcomere loss with deformed mitochondria consistent with a mitochondrial myopathy. Conclusions: When performing strabismus repair on patients with apparent ophthalmoplegia, resected muscle can be evaluated by electron microscopy for mitochondrial myopathy.
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