ArticleJournal of translational medicine2024
Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.
Article in Journal of translational medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Atypical MRI presentation of symmetrical thalamic and basal ganglia lesions in adult-onset MOG-IgG-associated disease: a case report.Frontiers in human neuroscience · 2026Article
- Disulfiram-Induced Optic Neuropathy: Prognostic Factors, Literature Review and Comparison with Alcohol-Tobacco Induced Optic Neuropathy.Neuro-ophthalmology (Aeolus Press) · 2026Article
- Ethanol and Cyanide: A Case Report on Toxic and Nutritional Optic Neuropathy Associated With Alcohol and Tobacco.Cureus · 2025Article
- Case Report: Disulfiram-induced optic neuropathy.Frontiers in neurologyArticle
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe pathophysiology of toxico-nutritional optic neuropathies remains debated, with no clear understanding of the respective roles played by the direct alcohol toxicity, smoking and the often associated vitamin deficiencies, which are risk factors for optic neuropathy. Our aim was to investigate genetic susceptibility in patients with bilateral infraclinical optic neuropathy associated with chronic alcohol use disorder.
methodsThis retrospective cohort study included 102 visually asymptomatic patients with documented alcohol use disorder from a French reference center. Optic neuropathy was identified with optical coherence tomography (OCT), after which genetic susceptibility in the group of affected patients was investigated. Genetic testing was performed using panel sequencing of 87 nuclear genes and complete mitochondrial DNA sequencing.
resultsOptic neuropathy was detected in 36% (37/102) of the included patients. Genetic testing of affected patients disclosed two patients (2/30, 6.7%) with optic neuropathy associated with pathogenic variants affecting the SPG7 gene and five patients (5/30, 16.7%) who harbored variants of uncertain significance close to probable pathogenicity in the genes WFS1, LOXL1, MMP19, NR2F1 and PMPCA. No pathogenic mitochondrial DNA variants were found in this group.
conclusionsOCT can detect presence of asymptomatic optic neuropathy in patients with chronic alcohol use disorder. Furthermore, genetic susceptibility to optic neuropathy in this setting is found in almost a quarter of affected patients. Further studies may clarify the role of preventative measures in patients who might be predisposed to avoidable visual loss and blindness.
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