Inhibition of cGMP-Signalling Rescues Retinal Ganglion Cells From Axotomy-Induced Degeneration
The axons of retinal ganglion cells (RGCs) form the optic nerve, which relays visual information to the brain. RGC degeneration is the root cause of a variety of blinding diseases linked to optic nerve damage, including glaucoma, the second leading cause of blindness worldwide. The underlying cellular mechanisms of RGC degeneration are largely unclear; yet, they have been connected to excessive production of the signalling molecule nitric oxide (NO) by nitric oxide synthase (NOS). NO activates…
Leber Hereditary Optic Neuropathy With Magnetic Resonance Imaging Findings Suggestive of Optic Perineuritis and Optic Neuritis: A Diagnostic Challenge
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder characterized by subacute, painless, and bilateral vision loss, typically affecting young men. LHON is caused by mitochondrial DNA mutations, most commonly m.11778G>A, m.14484T>C, and m.3460G>A. LHON has incomplete penetrance, with a higher prevalence in men, and its diagnosis is often delayed because of clinical overlap with other optic nerve disorders, such as optic neuritis. Herein, we report the case of a 37-year-old…
Alterations in ganglion cell and nerve fiber layer in Leber hereditary optic neuropathy across clinical stages
CONCLUSION: In our analysis, we observed an unusual pattern in the genetic mutations, with G3460A being the second most frequent, rather than T14484C, which may be attributed to the limited sample size. 14 patients experienced acute or subacute vision loss, while eight were assessed for chronic disease. Those with chronic LHON demonstrated significantly thinner GCL and RNFL. These results underscore the importance of accelerating both diagnosis and treatment to facilitate prompt intervention for…
DNAJC30 Mutation in a Patient with Coexisting Leber’s Hereditary Optic Neuropathy and Multiple Sclerosis (Harding’s Syndrome): A Case Report
CONCLUSION: This case further expands the clinical presentations of DNAJC30-related LHON and underscores the importance of considering LHON in patients with demyelinating syndrome presenting with severe bilateral visual loss and presumed optic neuritis unresponsive to steroids.
Early Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis
Background/Objectives: Leber hereditary optic neuropathy (LHON) is often misdiagnosed in its early stages as idiopathic single isolated optic neuritis (SION) or multiple-sclerosis-associated optic neuritis (MS-ON) due to the young age of the patients, the subacute vision loss, and the central visual field defect. The aim of this retrospective study was to evaluate changes in the peripapillary RNFL and GCLT over time in patients with early LHON, MS-ON, and SION in order to differentiate Leber…
Evaluation of retinal microvascular characteristics in Leber hereditary optic neuropathy based on optical coherence tomography angiography
Objective: To evaluate retinal microvascular characteristics in patients with Leber hereditary optic neuropathy (LHON) by optical coherence tomography angiography (OCTA). Methods: The LHON patients diagnosed with 11778G>A mutation in the Department of Neurology, Beijing Tongren Hospital, Capital Medical University from August 2022 to August 2024 were retrospectively collected. Family members of the patients and hospital staff were recruited as healthy controls during the same period. LHON…
Remarkable visual improvement in Leber hereditary optic neuropathy
CONCLUSION: In LHON cases with remarkable visual improvement, the recovery began earlier, and the visual field defects were relatively mild and tended to persist in the temporal region after improvement. Understanding these cases of notable improvement may inform future treatment strategies.
Leber’s Hereditary Optic Neuropathy with Retinal Hemorrhage
Leber’s hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage in the acute phase. Among 82 cases (164 eyes) of LHON who visited the Inoue Eye Hospital, retinal hemorrhage was observed in 5 cases (5 eyes). The age at onset was 36 (27-46)…
Leber’s hereditary optic neuropathy and multiple sclerosis: overlap between mitochondrial disease and neuroinflammation
Although Multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) have distinct pathophysiological mechanisms, they are both neurodegenerative conditions that involve mitochondrial dysfunction. MS is an autoimmune disease that is characterized by demyelination and neuroinflammation; and LHON is a mitochondrial disorder predominantly affecting the optic nerves, resulting in severe vision loss. Recent studies have highlighted the coexistence of these two conditions, particularly in…
Vitamin A treatment restores vision failures arising from Leber’s hereditary optic neuropathy-linked mtDNA mutation
Leber hereditary optic neuropathy (LHON) is a paradigm for mitochondrial retinopathy due to mitochondrial DNA (mtDNA) mutations. However, the mechanism underlying retinal cell-specific effects of LHON-linked mtDNA mutations remains poorly understood and there has been no effective treatment or cure for this disorder. Using a mice model bearing a LHON-linked ND6P25L mutation, we demonstrated that the mutation caused retinal cell-specific deficiencies, especially in retinal ganglion cells (RGC),…