Human extraocular muscles in mitochondrial diseases: Comparing chronic progressive external ophthalmoplegia with Leber's hereditary optic neuropathy

Arturo Carta, V. Carelli, T. D'Adda, F. N. Ross-Cisneros, A. A. Sadun

Research output: Contribution to journalArticlepeer-review

Abstract

Aims: To compare the ultrastructural aspects of human extraocular muscles in two types of mitochondrial disease: chronic progressive external ophthalmoplegia (CPEO) and Leber's hereditary optic neuropathy (LHON). Methods: Muscle samples of the medial rectus obtained from surgery in a sporadic case of CPEO associated with deleted mitochondrial DNA, and post mortem in a case of 3460/ ND1 LHON were processed for electron microscopy (EM). The medial rectus from an autoptic time to fixation matched control was used to exclude postmortem artefacts. Results: The CPEO specimen revealed focal areas of disruption and abnormalities of mitochondria in some muscle fibres, creating a "mosaic-like" pattern. In the LHON specimen a diffuse increase in both number and size of mitochondria (mean diameter 0.85 μm v 0.65 μm of control, p

Original languageEnglish
Pages (from-to)825-827
Number of pages3
JournalBritish Journal of Ophthalmology
Volume89
Issue number7
DOIs
Publication statusPublished - Jul 2005

ASJC Scopus subject areas

  • Ophthalmology

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