Visual Functions in Patients With Leber Hereditary Optic Neuropathy (LHON)
CONCLUSIONS: Face perception is strongly impaired in patients with LHON. In addition, although the selection and manipulation of real objects to execute a task are slowed, they can be performed efficiently using peripheral vision.
Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits
An in-depth analysis of susceptibility factors modifying the penetrance of rare Leber hereditary optic neuropathy-causing mutations in respiratory complex I genes encoded in mitochondrial deoxyribonucleic acid has not been performed. To bridge this gap, we conducted a review of the literature on rare mutations associated with LHON, selected those with substantial evidence of pathogenicity, and performed an in-depth analysis of the various pedigrees. Examining the influences that modify the…
Reprogramming patient-iPSC specific retinal organoids for deciphering epigenetic modifications of RNA methylation
CONCLUSION: These findings suggest that differential m6A modifications may play pivotal roles in the pathogenesis of retinal neurodegenerative diseases and affect the progression of the disease in affected individuals.
Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA disease characterised by sequential bilateral vision loss due to loss of retinal ganglion cells. The purpose of this review is to provide an update on the results of recent clinical trials for LHON, focusing on studies of idebenone and lenadogene nolparvovec gene therapy.
Five-Year Outcomes of Lenadogene Nolparvovec Gene Therapy in Leber Hereditary Optic Neuropathy
CONCLUSIONS AND RELEVANCE: In this analysis of the RESTORE trial, follow-up of patients with LHON due to the MT-ND4 gene variant unilaterally treated with lenadogene nolparvovec demonstrated a sustained bilateral improvement in BCVA and a good safety profile up to 5 years after treatment. This evidence of persistent benefit over time is promising for the use of gene therapy in these patients.
DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome
No abstract
LNC-ing Genetics in Mitochondrial Disease
Primary mitochondrial disease (MD) is a group of rare genetic diseases reported to have a prevalence of 1:5000 and is currently without a cure. This group of diseases includes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), Leber’s hereditary optic neuropathy (LHON), Leigh syndrome (LS), Kearns-Sayre syndrome (KSS), and myoclonic epilepsy and ragged-red fiber disease (MERRF). Additionally, secondary mitochondrial…
Efficacy of Intravitreal rAAV2-ND4 Injection in Treated Versus Fellow Eyes with Leber’s Hereditary Optic Neuropathy: A Meta-Analysis
To compare the outcomes of rAAV2-ND4 injection in treated versus fellow eyes with Leber’s hereditary optic neuropathy (LHON). The protocol was pre-registered on PROSPERO (CRD42023441669). PubMed, Ovid MEDLINE, Cochrane CENTRAL, Google Scholar, Embase, CrossRef, OpenAlex, and Web of Science were reviewed from 1990-2023. Our analysis included 358 eyes of 307 patients. Of them, 256 (83%) patients received unilateral injections while 51 (17%) received bilateral injections. The mean age was 32 years….
Respiratory Chain Complex I Deficiency in Leber Hereditary Optic Neuropathy: Insights from Ophthalmologic and Molecular Investigations in Tunisia
CONCLUSION: This is the first Tunisian report of mtDNA mutations identified in Tunisia causing the LHON. The main factors involved in the pathophysiological mechanisms of this disease are genetic, epigenetic, hormonal and environmental influences.
Brain magnetic resonance imaging features in Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is the most common inherited mitochondrial disease, characterized by the development of bilateral partial optic nerve atrophy. Modern neuroimaging technologies enable the acquisition of high-quality images, allowing for the evaluation of all structural components of the orbits, including the optic nerve. Consequently, the relevance of performing magnetic resonance imaging (MRI) in patients with LHON has increased. MRI is an essential tool for clarifying…