Myopathies mitochondriales oculaires: un eventail de presentations cliniques. [Ocular mitochondrial myopathies: a spectrum of clinical presentations]

Détails

ID Serval
serval:BIB_227DADE19E0D
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Myopathies mitochondriales oculaires: un eventail de presentations cliniques. [Ocular mitochondrial myopathies: a spectrum of clinical presentations]
Périodique
Klinische Monatsblatter fur Augenheilkunde
Auteur(s)
Glutz von Blotzheim  S., Borruat  F. X., Hirt  L.
ISSN
0023-2165 (Print)
Statut éditorial
Publié
Date de publication
05/1998
Volume
212
Numéro
5
Pages
299-300
Notes
English Abstract
Journal Article --- Old month value: May
Résumé
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.
Mots-clé
Adult Chromosome Deletion DNA, Mitochondrial/genetics Female Humans Kearns-Sayer Syndrome/*diagnosis/genetics Male Ophthalmoplegia, Chronic Progressive External/*diagnosis/genetics Retrospective Studies
Pubmed
Création de la notice
28/01/2008 12:37
Dernière modification de la notice
20/08/2019 12:59
Données d'usage