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

Details

Serval ID
serval:BIB_DB82411289EF
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Neuropathie optique alcoolo-tabagique: un piège diagnostique de la neuropathie optique de Leber [Optic neuropathy caused by alcoholism and smoking: a diagnostic pitfall of Leber's optic neuropathy]
Journal
Revue neurologique
Author(s)
Borruat F.X., Hirt L., Regli F.
ISSN
0035-3787 (Print)
ISSN-L
0035-3787
Publication state
Published
Issued date
11/1994
Peer-reviewed
Oui
Volume
150
Number
11
Pages
799-801
Language
french
Notes
Publication types: Case Reports ; English Abstract ; Journal Article
Publication Status: ppublish
Abstract
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.
Keywords
Adult, Alcoholism/complications, DNA Mutational Analysis, DNA, Mitochondrial/genetics, Diagnosis, Differential, Humans, Male, Optic Atrophies, Hereditary/diagnosis, Optic Atrophies, Hereditary/genetics, Optic Nerve Diseases/diagnosis, Optic Nerve Diseases/etiology, Smoking/adverse effects
Pubmed
Web of science
Create date
28/01/2008 12:37
Last modification date
28/05/2024 6:09
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