Leber’s hereditary optic nerve atrophy

This review is devoted to Leber’s hereditary optic neuropathy (LHON), a rare maternally inherited ophthalmic disorder presenting as optic nerve atrophy and associated with an unfavorable prognosis. LHON is the most common primary mitochondrial DNA disorder, and most patients (more than 90% of cases) carry one of three point mutations. The 11778G>A mutation in the MT-ND4 gene is the most common worldwide and causes the most severe variant of the disease. LHON typically manifests as bilateral, painless, acute or subacute significant vision loss, most often in young men. Environmental factors play a crucial role in triggering LHON and determining its severity. A preliminary diagnosis is based on family history and the initial clinical presentation, whereas genetic testing establishes the definitive diagnosis. Given the availability of specific treatment for LHON, early diagnosis is crucial for ensuring therapeutic effectiveness. The only drug currently approved for the treatment of LHON is the antioxidant, synthetic coenzyme Q10 analogue idebenone. Among alternative therapeutic strategies, gene therapy is at the most advanced stage of development.