Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia

Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia

Abstract Background Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) rare disease due to the pathogenic variant of the NADH dehydrogenase enzyme. LHON is characterized by a sudden central vision loss due to focal degeneration of the retinal ganglion cell layer and optic nerve....

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Bibliographic Details
Main Authors: Latifa Chkioua, Yessine Amri, Chayma Sahli, Tawfik Nasri, Mohamed Omar Miladi, Taieb Massoud, Sandrine Laradi, Mohamed Ghorbel, Hassen Ben Abdennebi
Format: Article
Language:English
Published: BMC 2024-11-01
Series:BMC Genomics
Subjects:
Leber hereditary optic neuropathy
Mitochondrial DNA
Mutations
Pathophysiological mechanisms
Online Access:https://doi.org/10.1186/s12864-024-11060-0
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