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[Ocular mitochondrial myopathies: a spectrum of clinical presentations]
S Glutz von Blotzheim1, F X Borruat, L Hirt
1Hôpital Ophtalmique Jules Gonin, Lausanne.
Purpose:
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.