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Levator Palpebrae Biopsy and Diagnosis of Progressive External Ophthalmoplegia

Published online by Cambridge University Press:  02 December 2014

Gerald Pfeffer ,
Paula J. Waters ,
John Maguire ,
Hilary D. Vallance ,
V. A. Wong  and
Michelle M. Mezei
Gerald Pfeffer
Affiliation:
Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada Clinician Investigator Program, University of British Columbia, Vancouver, British Columbia, Canada
Paula J. Waters
Affiliation:
Biochemical Genetics lab, University of British Columbia, Vancouver, British Columbia, Canada Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
John Maguire
Affiliation:
Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
Hilary D. Vallance
Affiliation:
Biochemical Genetics lab, University of British Columbia, Vancouver, British Columbia, Canada Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada
V. A. Wong
Affiliation:
Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada
Michelle M. Mezei*
Affiliation:
Division of Neurology, University of British Columbia, Vancouver, British Columbia, Canada Adult Metabolic Disease Clinic, University of British Columbia, Vancouver, British Columbia, Canada
*
Adult Metabolic Disease Clinic, 4th floor, GLDHCC, 2775 Laurel St., Vancouver, British Columbia, V5Z 1M9, Canada. Email: mezei@mail.ubc.ca
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Abstract

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Background:

Progressive external ophthalmoplegia (PEO) is a mitochondrial myopathy of ocular muscles. Diagnostic investigation usually involves limb skeletal muscle biopsy and molecular genetic studies, although diagnostic yield tends to be low. The purpose of this study was to evaluate the diagnostic yield obtained by analysis of levator palpebrae (LP) muscle tissue.

Methods:

This is a clinicopathologic study of 8 patients with a diagnosis of PEO, who had LP muscle biopsies as part of oculoplastic procedures. Six of these patients also had limb muscle biopsies. Histopathology, electron microscopy and genetic studies were performed.

Results:

Diagnostic histopathologic findings were present in 4/6 quadriceps biopsies, and 7/8 LP biopsies. Genetic testing on DNA extracted from LP muscle revealed abnormalities in 4 patients.

Conclusion:

In patients whose LP muscle demonstrate both genetic defects and histopathological abnormalities, the diagnosis of PEO can be confirmed without limb muscle biopsy. Patients having LP resection during oculoplastics procedures for treatment of ptosis may therefore be able to avoid a separate procedure for limb muscle biopsy. Further study is required to determine the specificity of these findings.

Type
Original Article
Information
Canadian Journal of Neurological Sciences , Volume 39 , Issue 4 , July 2012 , pp. 520 - 524
Copyright
Copyright © The Canadian Journal of Neurological 2012

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