U Lachmund1, D S Mojon. 1. Institut für Radiologie, Kantonsspital St. Gallen, St. Gallen.
Abstract
BACKGROUND: We present a case of Leber's hereditary optic neuropathy (LHON) manifested by malnutrition, tobacco and alcohol abuse. HISTORY AND SIGNS: We report on a 36-year-old patient with alcohol and tobacco abuse for years. 5 months before manifestation of LHON, the alcohol abuse was stopped. Because of congenital cataract the reduction in visual acuity, which occurred after alcohol consumption was stopped, was first misinterpreted. Findings at first exam: visual acuity right eye 0.2, left eye 0.05, temporal optic disc pallor left > right, vitamin B12 and folic acid at the lower level. Molecular genetic analysis: LHON mtDNA 11 778 mutation. Therefore, a pure tobacco-alcohol optic neuropathy could be excluded. THERAPY AND OUTCOME: Under high-dose vitamin-B complex substitution the visual acuity did not improve in the next 6 months. CONCLUSIONS: The cause of the manifestation of the LHON is unknown and multifactorial. In this case the manifestation was caused by malnutrition and tobacco abuse.
BACKGROUND: We present a case of Leber's hereditary optic neuropathy (LHON) manifested by malnutrition, tobacco and alcohol abuse. HISTORY AND SIGNS: We report on a 36-year-old patient with alcohol and tobacco abuse for years. 5 months before manifestation of LHON, the alcohol abuse was stopped. Because of congenital cataract the reduction in visual acuity, which occurred after alcohol consumption was stopped, was first misinterpreted. Findings at first exam: visual acuity right eye 0.2, left eye 0.05, temporal optic disc pallor left > right, vitamin B12 and folic acid at the lower level. Molecular genetic analysis: LHON mtDNA 11 778 mutation. Therefore, a pure tobacco-alcoholoptic neuropathy could be excluded. THERAPY AND OUTCOME: Under high-dose vitamin-B complex substitution the visual acuity did not improve in the next 6 months. CONCLUSIONS: The cause of the manifestation of the LHON is unknown and multifactorial. In this case the manifestation was caused by malnutrition and tobacco abuse.
Authors: Valerio Carelli; Flavia Franceschini; Silvia Venturi; Piero Barboni; Giacomo Savini; Giuseppe Barbieri; Ettore Pirro; Chiara La Morgia; Maria L Valentino; Francesca Zanardi; Francesco S Violante; Stefano Mattioli Journal: Environ Health Perspect Date: 2007-01 Impact factor: 9.031