Document Detail

Leber hereditary optic neuropathy in 2 of 4 siblings with 11778 mtDNA mutation: clinical variability or effect of toxic environmental exposure?
MedLine Citation:
PMID:  15711068     Owner:  NLM     Status:  MEDLINE    
Although mitochondrial (mt) DNA mutation at nucleotide position 11778 accounts for most cases of Leber's hereditary optic neuropathy (LHON), the phenotypic expression may vary greatly even in different members of the same family. The possible influence of exogenous toxicity on phenotypic expression is still debated in LHON. Here we describe 4 siblings carrying the 11778 mtDNA mutation with a different phenotype. The index case developed an atypical optic neuropathy at the age of 60 years after a long history of occupational exposure to polycyclic aromatic hydrocarbons (PAHs). This report underlines a number of unanswered questions about phenotypic variability of LHON including the possible influence of PAH toxicity.
Alessandra Rufa; Maria Teresa Dotti; Elena Cardaioli; Paola Da Pozzo; Antonio Federico
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Publication Detail:
Type:  Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-02-10
Journal Detail:
Title:  European neurology     Volume:  53     ISSN:  0014-3022     ISO Abbreviation:  Eur. Neurol.     Publication Date:  2005  
Date Detail:
Created Date:  2005-04-01     Completed Date:  2005-05-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0150760     Medline TA:  Eur Neurol     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  32-4     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2005 S. Karger AG, Basel.
Department of Neurological and Behavioral Sciences, Medical School, University of Siena, Siena, Italy.
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MeSH Terms
DNA, Mitochondrial / genetics*
Environmental Exposure*
Family Health*
Middle Aged
Optic Atrophy, Hereditary, Leber / etiology*,  genetics*
Polycyclic Hydrocarbons, Aromatic / poisoning
Reg. No./Substance:
0/DNA, Mitochondrial; 0/Polycyclic Hydrocarbons, Aromatic

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