[Leber hereditary optic neuropathy: update on genetics and pathomechanisms]

V M Smimov

doi:10.1016/S0181-5512(22)00446-6

[Leber hereditary optic neuropathy: update on genetics and pathomechanisms]

J Fr Ophtalmol. 2022 Nov;45(8S1):S17-S23. doi: 10.1016/S0181-5512(22)00446-6.

[Article in French]

Author

V M Smimov¹

Affiliation

¹ Faculté de médecine, université de Lille, F-59000 Lille, France; Exploration de la vision et neuro-ophtalmologie, CHU de Lille, F-59000 Lille, France; CNRS, INSERM, Institut de la vision, Sorbonne Université, F-75012 Paris, France. Electronic address: vasily.smirnov@chu-lille.fr.

PMID: 36529473
DOI: 10.1016/S0181-5512(22)00446-6

Abstract

Leber Hereditary Optic Neuropathy is still a dramatic disease of optic nerve. Origins and mechanisms are extensively studied in the last decades, in link with emergent therapeutic approaches. This article is an update on genetics and pathophysiology of LHON and leber-like inherited optic neuropathies.

Keywords: ADNmt; DnaJC30; Leber hereditary optic neuropathy; NDUFS2; Neuropathie optique de Leber; mcat; mtDNA.

Publication types

English Abstract

MeSH terms

DNA, Mitochondrial
Humans
Mutation
Optic Atrophy, Hereditary, Leber* / diagnosis
Optic Atrophy, Hereditary, Leber* / genetics
Optic Atrophy, Hereditary, Leber* / therapy
Optic Nerve
Optic Nerve Diseases* / etiology
Optic Nerve Diseases* / genetics

Substances

DNA, Mitochondrial