Bedeutung der mitochondrialen DNA-Analyse in der Diagnostik der chronisch-progressiven externen Ophthalmoplegie (CPEO)

Abstract

In patients with unexplained binocular diplopia , oculomotor deficits and/or acquired ptosis, an underlying mitochondrial cytopathy should be considered. Even in the case of inconspicuous skeletal muscle histology and biochemistry, molecular genetic testing of skeletal muscle DNA is advisable in order to establish the diagnosis.

Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis

“…These findings are similar to findings in the orbicularis muscle of our patients with CPEO. Histology from skeletal muscle may be noninformative despite mitochondrial DNA mutations [23]. Findings in extraocular muscles obtained during strabismus surgery from two patients with CPEO included matrix emptying and concentric cristae, and are comparable to our findings in levator and orbicularis muscle [1,2].…”

Chronic Progressive External Ophthalmoplegia

“…[17][18][19] Atrophy of the type II fibers, a finding that has not been reported to date, was observed in half of our patients. The most common enzyme alteration was the combined deficit of complexes I and IV.…”

Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin

“…32 The mtDNA mutations can be present in the absence of definite clinical and morphologic features. 33 In our study of the 11 patients who had a normal muscle biopsy, ten had mtDNA mutations. This highlights the importance of genetic testing.…”