Ophthalmic involvement in myo-neuro-gastrointestinal encephalopathy syndrome

A. B. Threlkeld, N. R. Miller, K. C. Golnik, J. W. Griffin, R. W. Kuncl, D. R. Johns, M. Lehar, O. Hurko

Research output: Contribution to journalArticlepeer-review

Abstract

We studied the clinical, histopathologic, neuroradiologic, biochemical, and genetic profile of a patient with the myo-neuro-gastrointestinal encephalopathy syndrome, a recently described multisystem mitochondriopathy characterized by blepharoptosis and ophthalmoparesis. The patient had severe intestinal pseudo-obstruction and a mixed demyelinating and axonal neuropathy. Abnormal collections of mitochondria in nerve and muscle as well as diffuse white matter disease were present. Cytochrome oxidase activity in muscle mitochondria was reduced. No mitochondrial DNA deletions were detected.

Original languageEnglish (US)
Pages (from-to)322-328
Number of pages7
JournalAmerican journal of ophthalmology
Volume114
Issue number3
DOIs
StatePublished - 1992

ASJC Scopus subject areas

  • Ophthalmology

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