Article

Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population

2026-01-18

Abstract excerpt

Leber hereditary optic neuropathy (LHON) is primarily caused by pathogenic mitochondrial DNA (mtDNA) variants, most commonly the m.11778G>A variant in the MT-ND4 gene. The presence of this variant alone is insufficient to trigger disease symptoms, of which vision loss is the hallmark. Given the incomplete penetrance and inter-population variability in modifying factors, this study aimed to investigate two previou...

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Literature Corpus work: 7d0ba68a-a8c0-538c-8372-3d6f79eb57b2
DOI: 10.64898/2026.01.14.26343833

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