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Article

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

BMC genomics - 22 Nov 2024

Chkioua Latifa, Amri Yessine, Sahli Chayma, Nasri Tawfik, Miladi Mohamed Omar, Massoud Taieb, Laradi Sandrine, Ghorbel Mohamed, Ben Abdennebi Hassen

Abstract excerpt

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. Symptoms usually appear between the age of 18 and 35 years. Some individuals present the mtDNA mutations but not presented...

Topics

Humans
Optic Atrophy, Hereditary, Leber
Tunisia
Electron Transport Complex I
Male
NADH Dehydrogenase
Female
Mutation
Adult
DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adolescent

Pedigree

Young Adult

Mitochondrial Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 39578757
DOI: 10.1186/s12864-024-11060-0
PMCID: PMC11585200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-39578757-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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