Metformin may alter the course of Leber’s hereditary optic neuropathy: a case report
Leber’s hereditary optic neuropathy (LHON) is a rare inherited mitochondrial disease caused by variants in mitochondrial DNA (mtDNA) transmitted exclusively through the maternal line. The disease predominantly affects young males and is characterized by progressive bilateral vision loss. Idebenone, a well-studied drug, modestly enhances the mitochondrial function and visual acuity in many patients with LHON. In this study, we report the case of a 48-year-old woman diagnosed with LHON…
Late-onset Leber’s hereditary optic neuropathy and antiandrogens for prostate cancer: is there a causative link?
INTRODUCTION: Leber’s hereditary optic neuropathy (LHON) is a maternally inherited condition due to mitochondrial DNA (mtDNA) mutations usually affecting young men within their thirties, while women seem protected by estrogens with a female-to-male ratio of 1:3. Late-onset cases (over 40 years of age) are usually associated to toxic exposure to tobacco smoke or drugs causing mitochondrial dysfunction.
Developing Intravenous Delivery of Water-Soluble Prodrugs of Idebenone for the Treatment of Acute Ischemic Stroke
Ischemic stroke (IS) represents a substantial global health threat, but only a few effective medicines exist to treat IS, with a huge unmet clinical need. Idebenone (IDB), a coenzyme Q10 analogue, has multitarget effects, including enhancing mitochondrial energy metabolism, scavenging free radicals, and anti-inflammation, which is approved in Europe for treating Leber’s hereditary optic neuropathy (LHON). However, IDB has poor water solubility and oral bioavailability, resulting in insufficient…
Combination treatment with antioxidants and creatine alleviates common and variant-specific mitochondrial impairments in Leber’s hereditary optic neuropathy patient-derived fibroblasts
Leber’s hereditary optic neuropathy (LHON) is characterized by painless and rapidly progressive central vision loss, caused by various mutations in mitochondrial DNA, leading to a high genetic and phenotypic heterogeneity. Currently, the only approved therapy is idebenone, a CoQ10 synthetic analogue, that improved visual acuity in some LHON patients; however, results are highly variable due its dependency on functional NAD(P)H oxidoreductase I (NQO1) protein levels, thus limiting broader…
In Vivo Reprogramming Dysfunctional Retinal Ganglion Cells and Visual-phototransduction via Wireless Charging Nanogold for Leber’s Hereditary Optic Neuropathy
Gene therapy offers a promising treatment for Leber’s hereditary optic neuropathy (LHON), a disease of retinal ganglion cell (RGC) degeneration with severe vision loss caused by mitochondria-NADH dehydrogenase 4 (MT-ND4) mutations. However, optimizing mitochondria-targeted gene delivery to promote RGC regeneration and visual-photoreception recovery remains challenging in LHON. Here, mitochondria-targeted wireless charging gold nanoparticles (WCGs), doubling as a wireless charging-mediated…
Initial Macular Ganglion Cell Changes During Conversion of Leber Hereditary Optic Neuropathy
CONCLUSIONS: Nasal GCC thinning is a reliable early indicator of the conversion from normal vision to visual loss in LHON as demonstrated in 10 of 17 eyes. This pattern of GCC loss provides insights into the disease mechanism and highlights the utility of OCT analysis for early diagnosis. The nasal GCC loss suggests selective vulnerability of ganglion cells serving the foveal region in LHON. Early identification of nasal GCC changes may facilitate timely intervention as gene therapy and other…
Extraocular features of Leber hereditary optic neuropathy: A scoping review
CONCLUSION: Early detection of these systemic manifestations, especially in cardiac and neurological systems, could help with prompt intervention and improve patient outcomes. Further research into gene therapy and mitochondrial replacement techniques holds promising potential for developing more effective treatment strategies.
Technological advances in the diagnosis and management of inherited optic neuropathies
Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (DOA). Their pathogenesis is characterised by mitochondrial dysfunction, which causes loss of RGCs leading to irreversible vision loss. Although currently incurable, there are several emerging therapeutic avenues encompassing gene…
‘Adrift From the World’: Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom – A Qualitative Study
CONCLUSIONS: Visual impairment due to an ION threatens the independence of affected individuals, leading to psychosocial losses and reduced emotional wellbeing. Despite the challenges they face, people living with an ION describe a “relatively” good VRQoL, often due to the positive impact of social support, enabling them to lead fulfilling lives.
Leber Hereditary Optic Neuropathy and Epilepsy in a Mexican Patient
This case describes a woman in her 30s who was diagnosed with Leber hereditary optic neuropathy (LHON), a genetic disorder causing vision loss associated with mitochondrial DNA mutations. Initially diagnosed in childhood, she also developed epilepsy in adolescence. Despite treatment with multiple anticonvulsants, her initial seizures were only partially controlled. Brain MRI and scalp EEG results indicated left temporal lobe epilepsy, and she ceased seizures after modification of her…