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To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in\u2010depth analysis of the various pedigrees. Examining the influences that modify the penetrance of the classical mutations associated with this disease may offer insights into susceptibility factors in individuals carrying the rare mutations.<\/jats:p>","DOI":"10.1111\/cge.14683","type":"journal-article","created":{"date-parts":[[2024,12,23]],"date-time":"2024-12-23T05:01:31Z","timestamp":1734930091000},"page":"505-510","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial\n                    <scp>DNA<\/scp>\n                    \u2010Encoded Respiratory Complex I Subunits"],"prefix":"10.1111","volume":"107","author":[{"given":"Pilar","family":"Bayona\u2010Bafaluy","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular Universidad de Zaragoza  Zaragoza Spain"},{"name":"Instituto de Investigaci\u00f3n 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