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…
Childhood Blindness: A Rare Case of Leber Hereditary Optic Neuropathy in a 16-Year-Old Egyptian Patient
Leber hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial genetic disorder that is rarely encountered in daily clinical practice. It presents by an acute or subacute onset and a progressive course of painless, bilateral, sequential severe loss of vision, mostly seen in young males. Mutations in the mitochondrial DNA in these patients lead to dysfunction at complex I of the respiratory chain, causing a selective degeneration of the retinal ganglion cells and predisposition…
Leber Hereditary Optic Neuropathy With Significant Visual Recovery: An MT-ND6 Mutation in a Malay Patient
Leber hereditary optic neuropathy (LHON) is a rare maternally inherited mitochondrial disorder that predominantly affects young men, leading to optic nerve degeneration and subsequent vision loss. The rarity of LHON and its clinical similarity to optic neuritis complicates diagnosis, necessitating genetic testing to confirm specific point mutations and predict visual outcomes. We report a rare case of an 18-year-old Malay male with m.14484T>C/MT-ND6 mutation of LHON, who demonstrated remarkable…
Phenotypic Heterogeneity of the Mitochondrial DNA Variant m.13513 G > A
The mitochondrial DNA (mtDNA) variant m.13513G > A is increasingly recognized as a cause of syndromic and nonsyndromic mitochondrial disorders (MIDs). This minireview aims a summarizing and discussing recent and previous findings about the phenotypic heterogeneity of this variant. A systematic literature review using the databases PubMed and Google Scholar by application of specific search terms was performed. As per the end of July 2021, at least 50 patients carrying the mtDNA variant m.13513G…
Genetic family studies and prospective evaluation for multisystem involvement are needed in LHON patients
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Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes
Hereditary optic neuropathies (HON) are a group of diseases due to genetic defects either in mitochondria or in nuclear genomes. The increasing availability of genetic testing has expanded a broader genetic and phenotypic spectrum of HON than previously recognized. To provide systematic insight into the genetic and phenotypic landscape of HON attributed to 50 nuclear genes, we conducted genetic analysis on part of 4776 index patients with clinical diagnosis of HON following our previous study on…
Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber Hereditary Optic Neuropathy
Our aim was to assess the visual outcomes of patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A MT-ND4 mutation who had no treatment (natural history) or received idebenone or lenadogene nolparvovec. Efficacy outcomes included clinically relevant recovery (CRR) from nadir and final best-corrected visual acuity (BCVA). For the natural history and idebenone groups, we performed a systematic review of the literature and available clinical/regulatory reports. For the…
An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant
Leber hereditary optic neuropathy (LHON) is characterized by vision loss due to the degeneration of retinal ganglion cells. LHON-Plus refers to LHON with additional extraocular findings. Neurological conditions observed in LHON-Plus include seizures, encephalopathy, movement disorders, neuropathy, and myopathy. Herein, we present a case with atypical LHON-Plus caused by a novel DNAJC30 disease-causing gene variant. A 15-year-old boy presented with acute headache, and blurred and decreased vision…