Abstract
Abstract: :
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.
Keywords: neuro–ophthalmology: diagnosis • microscopy: electron microscopy • eye movements