Neuropathie optique alcoolo-tabagique: un piege diagnostique de la neuropathie optique de Leber. [Optic neuropathy caused by alcoholism and smoking: a diagnostic pitfall of Leber's optic neuropathy]

Détails

ID Serval
serval:BIB_DB82411289EF
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Neuropathie optique alcoolo-tabagique: un piege diagnostique de la neuropathie optique de Leber. [Optic neuropathy caused by alcoholism and smoking: a diagnostic pitfall of Leber's optic neuropathy]
Périodique
Revue Neurologique
Auteur(s)
Borruat  F. X., Hirt  L., Regli  F.
ISSN
0035-3787 (Print)
Statut éditorial
Publié
Date de publication
11/1994
Peer-reviewed
Oui
Volume
150
Numéro
11
Pages
799-801
Notes
Case Reports English Abstract Journal Article --- Old month value: Nov
Résumé
A 39 year-old patient suffered bilateral painless visual loss while consuming abusively alcohol and cigarettes. Family history was remarkable for a similar episode in the patient's brother 21 years ago, while drinking and smoking heavily. A diagnosis of toxic optic neuropathy was made in another institution, but due to the positive family history, mitochondrial DNA was studied for a point mutations associated with Leber's hereditary optic neuropathy. A homoplasmic mutation at nucleotide 11778 was found. The patient's brother could not be studied. This case emphasizes the probable deleterious effects of epigenetic factors such as alcohol and cigarette smoke in patients harbouring mitochondrial DNA mutations associated with Leber's hereditary optic neuropathy and the need for mitochondrial DNA studies in atypical cases of optic neuropathy.
Mots-clé
Adult Alcoholism/*complications DNA Mutational Analysis DNA, Mitochondrial/genetics Diagnosis, Differential Humans Male Optic Atrophies, Hereditary/*diagnosis/genetics Optic Nerve Diseases/*diagnosis/etiology Smoking/*adverse effects
Pubmed
Web of science
Création de la notice
28/01/2008 12:37
Dernière modification de la notice
20/08/2019 16:00
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