Klinische Monatsblatter fur Augenheilkunde · 1998
[Ocular mitochondrial myopathies: a spectrum of clinical presentations].
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Glutz von Blotzheim S, Borruat F X, Hirt L
Аннотация
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.
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.