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Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?

CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and ad...

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Autores principales: Carelli, Valerio, Franceschini, Flavia, Venturi, Silvia, Barboni, Piero, Savini, Giacomo, Barbieri, Giuseppe, Pirro, Ettore, La Morgia, Chiara, Valentino, Maria L., Zanardi, Francesca, Violante, Francesco S., Mattioli, Stefano
Formato: Texto
Lenguaje:English
Publicado: National Institute of Environmental Health Sciences 2007
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797843/
https://www.ncbi.nlm.nih.gov/pubmed/17366829
http://dx.doi.org/10.1289/ehp.9245
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author Carelli, Valerio
Franceschini, Flavia
Venturi, Silvia
Barboni, Piero
Savini, Giacomo
Barbieri, Giuseppe
Pirro, Ettore
La Morgia, Chiara
Valentino, Maria L.
Zanardi, Francesca
Violante, Francesco S.
Mattioli, Stefano
author_facet Carelli, Valerio
Franceschini, Flavia
Venturi, Silvia
Barboni, Piero
Savini, Giacomo
Barbieri, Giuseppe
Pirro, Ettore
La Morgia, Chiara
Valentino, Maria L.
Zanardi, Francesca
Violante, Francesco S.
Mattioli, Stefano
author_sort Carelli, Valerio
collection PubMed
description CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention. CASE PRESENTATION: After a 6-month period of occupational exposure to n-hexane and other organic solvents, a 27-year-old man (a moderate smoker) developed an optic neuropathy. The patient had a full ophthalmologic and neurologic investigation, including standardized cycloergometer test for serum lactic acid levels and a skeletal muscle biopsy. His exposure history was also detailed, and he underwent genetic testing for LHON mitochondrial DNA mutations. The patient suffered a sequential optic neuropathy with the hallmarks of LHON and tested positive for the homoplasmic 11778G → A/ND4 mutation. Routine laboratory monitoring revealed increased concentrations of urinary 2.5 hexandione (n-hexane metabolite) and hippuric acid (toluene metabolite) in the period immediately preceding the visual loss. DISCUSSION: In a subject carrying an LHON mutation, the strict temporal sequence of prolonged appreciable occupational exposure followed by sudden onset of visual loss must raise a suspicion of causality (with a possible further interaction with tobacco smoke). RELEVANCE: In this article, we add to the candidate occupational/environmental triggers of LHON and highlight the need for appropriate case–control (and laboratory) studies to validate the causal effect of mixed toxic exposures.
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spelling pubmed-17978432007-03-21 Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy? Carelli, Valerio Franceschini, Flavia Venturi, Silvia Barboni, Piero Savini, Giacomo Barbieri, Giuseppe Pirro, Ettore La Morgia, Chiara Valentino, Maria L. Zanardi, Francesca Violante, Francesco S. Mattioli, Stefano Environ Health Perspect Research CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease. Investigation of precipitating environmental/occupational (and additional genetic) factors could be relevant for prevention. CASE PRESENTATION: After a 6-month period of occupational exposure to n-hexane and other organic solvents, a 27-year-old man (a moderate smoker) developed an optic neuropathy. The patient had a full ophthalmologic and neurologic investigation, including standardized cycloergometer test for serum lactic acid levels and a skeletal muscle biopsy. His exposure history was also detailed, and he underwent genetic testing for LHON mitochondrial DNA mutations. The patient suffered a sequential optic neuropathy with the hallmarks of LHON and tested positive for the homoplasmic 11778G → A/ND4 mutation. Routine laboratory monitoring revealed increased concentrations of urinary 2.5 hexandione (n-hexane metabolite) and hippuric acid (toluene metabolite) in the period immediately preceding the visual loss. DISCUSSION: In a subject carrying an LHON mutation, the strict temporal sequence of prolonged appreciable occupational exposure followed by sudden onset of visual loss must raise a suspicion of causality (with a possible further interaction with tobacco smoke). RELEVANCE: In this article, we add to the candidate occupational/environmental triggers of LHON and highlight the need for appropriate case–control (and laboratory) studies to validate the causal effect of mixed toxic exposures. National Institute of Environmental Health Sciences 2007-01 2006-09-19 /pmc/articles/PMC1797843/ /pubmed/17366829 http://dx.doi.org/10.1289/ehp.9245 Text en http://creativecommons.org/publicdomain/mark/1.0/ Publication of EHP lies in the public domain and is therefore without copyright. All text from EHP may be reprinted freely. Use of materials published in EHP should be acknowledged (for example, ?Reproduced with permission from Environmental Health Perspectives?); pertinent reference information should be provided for the article from which the material was reproduced. Articles from EHP, especially the News section, may contain photographs or illustrations copyrighted by other commercial organizations or individuals that may not be used without obtaining prior approval from the holder of the copyright.
spellingShingle Research
Carelli, Valerio
Franceschini, Flavia
Venturi, Silvia
Barboni, Piero
Savini, Giacomo
Barbieri, Giuseppe
Pirro, Ettore
La Morgia, Chiara
Valentino, Maria L.
Zanardi, Francesca
Violante, Francesco S.
Mattioli, Stefano
Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title_full Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title_fullStr Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title_full_unstemmed Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title_short Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
title_sort grand rounds: could occupational exposure to n-hexane and other solvents precipitate visual failure in leber hereditary optic neuropathy?
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797843/
https://www.ncbi.nlm.nih.gov/pubmed/17366829
http://dx.doi.org/10.1289/ehp.9245
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