[Ocular mitochondrial myopathies: a spectrum of clinical presentations].

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.