Leber hereditary optic neuropathy: utilities and carer burden from British and Irish participants
CONCLUSIONS: Findings suggest the HUI-3 may be more sensitive to the HRQL impact of vision loss compared to the EQ-5D and TTO method. The data indicate the potential value of an effective treatment for LHON. Qualitative findings describe the impact of LHON on carers. However, the burden described in the qualitative data was incongruent with quantitative measures, particularly the EQ-5D-5L. This demonstrates the value of conducting mixed-methods research and the importance of selecting measures…
Isolated and Syndromic Genetic Optic Neuropathies: A Review of Genetic and Phenotypic Heterogeneity
Nonsyndromic and syndromic hereditary optic neuropathies (HONs) encompass a variety of genetic illnesses that cause progressive optic nerve damage, resulting in considerable vision impairment. These disorders result from pathogenic variants in mitochondrial or nuclear DNA, impacting essential cellular processes like oxidative phosphorylation, mitochondrial dynamics, and neuroprotection. Advances in next-generation sequencing (NGS) have significantly improved the identification of genetic…
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)…