Oxidative Stress and Inflammatory Biomarkers in Aqueous Humor and Blood of Patients with Leber’s Hereditary Optic Neuropathy
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder that causes visual impairment due to the degeneration of retinal ganglion cells. Oxidative stress (OS) and inflammatory cytokines have been implicated in its pathophysiology. We investigated, for the first time, the presence of OS biomarkers and inflammatory cytokines in the aqueous humor and peripheral blood of LHON patients compared to controls, aiming to identify potential clinical biomarkers for diagnosis and disease…
Leber Hereditary Optic Neuropathy-Associated Novel Mutation in MT-RNR2 Gene: A Case Report
CONCLUSION: MT-RNR2 gene mutation was the possible cause for LHON in this patient. Herein, we describe a novel mutation and associated clinical features. This case report also underscores the importance of considering LHON as a differential diagnosis for optic neuritis, even in a patient with an established MS.
Difference in pupillary response to red and blue color stimuli between glaucoma and Leber hereditary optic neuropathy patients with comparable central visual dysfunction
CONCLUSIONS: Compared with POAG patients who had comparable macular structural and functional damage, LHON patients showed better pupillary responses during blue light stimulation and PIPR, reflecting preserved ipRGC function.
Amyotrophic Lateral Sclerosis With Concurrent LHON-associated m.14484T>C Mutation: A Case Report and Literature Review
CONCLUSION: We provide a case report and a literature review aimed at increasing the understanding of the connection between the two. It is essential to consider the potential modifying role of mitochondrial pathogenic genes in ALS.
Comparison of thickness changes in retinal nerve fibre layer in Leber’s hereditary optic neuropathy patients with 11778, 14484 and 3460 mutations
CONCLUSIONS: The papillomacular bundle was the initial and preferential site of involvement in LHON patients across all mutation types. The pattern of RNFL involvement was similar among the three mutations: temporal quadrant thinning occurred first, followed by the inferior and superior quadrants, and finally the nasal quadrant. Patients with G11778A and G3460A mutations exhibited earlier and more pronounced RNFL atrophy compared to those with T14484C mutations.
Atypical clinical and MRI features in Leber hereditary optic neuropathy: a case series of four patients
CONCLUSION: MRI abnormalities involving the optic pathway do not exclude LHON and may be present in atypical cases. LHON should be considered in all patients presenting with bilateral subacute visual loss, even when clinical or imaging features suggest alternative diagnoses.
Mitochondrial-Immune Overlap in Leber Hereditary Optic Neuropathy: A Case Report and Lessons Learned
Background and Clinical Significance: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by acute or subacute bilateral central vision loss, typically in young males. Multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) are immune-mediated demyelinating diseases that may present with optic neuritis and myelitis. Although distinct in etiology, recent evidence suggests that mitochondrial dysfunction and neuroinflammation can overlap, giving…
Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study
CONCLUSIONS: Our cohort of patients with WS1 showed uncharacteristically mild vision loss and minimal syndromic features, suggesting that a milder alternative phenotype with WFS1 mutations is possible in contrast to the traditional DIDMOAD syndrome. Compared with other OA syndromes, these patients with WS1 showed significant associations with arcuate visual field defects and trends toward superior/inferior peripapillary RNFL thinning. This suggests that relative preservation of papillomacular…
Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (ADOA) are the two most prevailing primary mitochondrial optic neuropathies. Both diseases preferentially affect the smallest retinal ganglion cells (GCs) of the papillomacular bundle, causing central visual loss in young patients. Although ADOA and LHON show striking similarities, including the convergence of underlying pathologic mitochondrial mechanisms, they differ clinically. The major distinction lies in the…
Trans-generational maintenance of mitochondrial DNA integrity in oocytes during early folliculogenesis
Mutations in mitochondrial DNA (mtDNA) can lead to mitochondrial and cellular dysfunction. However, recent studies suggest that purifying selection acts against mutant mtDNAs during transgenerational transmission. We investigated the mtDNA dynamics during ovarian follicle development. Using base-editing, we generated mice harboring a 3177 G > A mutation corresponding to the human Leber hereditary optic neuropathy (LHON)-related mtDNA mutation and confirmed a transgenerational reduction of the…