Progress in diagnosis and treatment of Leber's hereditary optic neuropathy
- PMID: 37982904
- DOI: 10.1007/s00109-023-02389-2
Progress in diagnosis and treatment of Leber's hereditary optic neuropathy
Abstract
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.
Keywords: Diagnosis; Leber’s hereditary optic neuropathy; Progress; Treatment; mtDNA.
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
References
-
- Goldberg I (1992) Ophthalmology clinics of North America. Am J Ophthalmol 113(6):730–731 - DOI
-
- Moser CC et al (2006) Electron tunneling chains of mitochondria. Biochim Biophys Acta Bioenerg (BBA) 1757(9–10):1096–1109
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