Progress in diagnosis and treatment of Leber’s hereditary optic neuropathy

J Mol Med (Berl). 2023 Nov 20. doi: 10.1007/s00109-023-02389-2. Online ahead of print.


Leber’s hereditary optic neuropathy (LHON) is a mitochondrial genetic disease with central vision loss as the main symptom. It is one of the diseases that cause vision loss and optic atrophy in young and middle-aged people. The mutations of these three primary mitochondrial mutations, m.11778G>A, m.14484T>C, and m.3460G>A, are the main molecular basis, but their pathogenesis is also affected by nuclear genes, mitochondrial genetic background, and environmental factors. This article summarizes the research progress on molecular pathogenesis, clinical symptoms, and treatment of LHON in recent years, aiming to summarize the genetic pathogenesis and clinical treatment points of LHON.

PMID:37982904 | DOI:10.1007/s00109-023-02389-2