Article
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
Orphanet journal of rare diseases - 11 Mar 2021
Rabenstein Andrea, Catarino Claudia B, Rampeltshammer Verena, Schindler David, Gallenmüller Constanze, Priglinger Claudia, Pogarell Oliver, Rüther Tobias, Klopstock Thomas
Abstract excerpt
BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young people. The causal LHON mutations of the mitochondrial DNA have incomplete penetrance, with the highest risk of disease manifestation for male mutation carriers in the second and third decades of...
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