[Ocular mitochondrial myopathies: a spectrum of clinical presentations].
OBJECTIVE
To determine the spectrum of clinical presentations of patients with chronic progressive external ophthalmoplegia (CPEO).


METHODS
Retrospective study of 13 cases with CPEO.


RESULTS
Eight patients presented an isolated CPEO, three patients had an associated retinopathy (Kearns-Sayre syndrome), one case suffered from retinopathy, deafness, diabetes mellitus and dysphagia, and one patient had an associated dysphagia. Mitochondrial DNA deletions were found in two cases.


CONCLUSIONS
Our cases illustrate the wide spectrum of mitochondrial ocular myopathies. As patients present mostly with ptosis and ophthalmoplegia, ophthalmologists should be aware of these rare conditions.
Hôpital Ophtalmique Jules Gonin, Lausanne.
S
S
Glutz von Blotzheim
F X
FX
Borruat
L
L
Hirt
D000328:Adult; D002872:Chromosome Deletion; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D017246:Ophthalmoplegia, Chronic Progressive External / Q000175:diagnosis* / Q000235:genetics; D012189:Retrospective Studies
D004272:DNA, Mitochondrial