Development of Two In Vitro ND1-LHON Models for Evaluating Gene Therapy Efficacy
CONCLUSIONS: The study demonstrates the utility of transmitochondrial cybrids and iPSC-derived RGCs as reliable in vitro models for studying ND1-related LHON. The rAAV-ND1 gene therapy effectively restored mitochondrial function, highlighting its potential as a treatment for LHON caused by ND1 mutations. These findings underscore the value of in vitro systems for evaluating therapies when robust animal models are unavailable.
Hearing Impairments Are Not Uncommon in LHON Patients
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Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies
CONCLUSION: CPC effectively distinguished glaucoma and meningioma from healthy controls but was less reliable for differentiating ON subtypes. Our results indicate, that central pupillary escape is associated with inner retinal dysfunction.
Exploring rare mitochondrial DNA in Leber hereditary optic neuropathy
CONCLUSIONS: Our study probes into the clinical and genetic diversity of LHON with rare mtDNA mutations, revealing varied clinical presentations, such as more frequent unilateral involvement and enhanced optic nerve T2 MRI signals. Visual recovery was significantly better in the younger cohort. These results suggest the need for broader genetic testing in atypical LHON cases and offer insights into better prognostic strategies for new therapies.
Visual Recovery in Leber’s Hereditary Optic Neuropathy Plus: A Case Report and Literature Insight
CONCLUSION: This case underscores the importance of considering LHON plus in young patients with bilateral optic neuropathy and systemic features, particularly when the MT:14484C>T mutation is present, as early mitochondrial support can lead to favorable outcomes.
Efficacy and safety of intravitreal rAAV2-ND4 therapy for Leber’s hereditary optic neuropathy
CONCLUSION: This Phase 1/2 trial demonstrated no serious safety concerns among the 12 participants. And dose of 4.5 × 10⁹ vg, 0.05 mL was to be used in future Phase 3 study.
Establishment of human Leber’s hereditary optic neuropathy model using iPSC-derived retinal organoids
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disease caused by mitochondrial DNA mutations, leading to central vision loss and retinal ganglion cell (RGC) degeneration. Progress in understanding LHON and developing treatments has been limited by the lack of human-like models. In this study, we aimed to establish a human retinal model of LHON using retinal organoids (ROs) from LHON patient-derived induced pluripotent stem cells (LHON-iPSCs). We first confirmed LHON-iPSCs were…
First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber’s Hereditary Optic Neuropathy
CONCLUSION: This case highlights the importance of considering arLHON as a possible diagnosis for patients with optic neuropathy, because the phenotype of arLHON appears to be identical to that of mtLHON and cannot be distinguished by clinicians.
Age-Associated Differences in Optic Disc Findings of Leber’s Hereditary Optic Neuropathy
We aimed to investigate the relationship between age and acute-phase optic disc findings in Leber’s Hereditary Optic Neuropathy (LHON). We examined 27 LHON patients (27 eyes) with the m.11778 G>A mutation within two months of onset, with acute-phase optic disc findings. We analyzed the relationship between age and three key optic disc features: peripapillary telangiectasia, disc hyperemia, and retinal nerve fiber layer (RNFL) swelling. The median age of onset was 37 years (range: 10-68), with 22…
A Case of Late-Onset Leber’s Hereditary Optic Neuropathy in Association with Heteroplasmic m.11778G>A/ND4 Mutation
A 68-year-old man described a progressive, painless, and bilateral reduction of visual acuity, with greater difficulties in central vision, over a period of 3 years. His past medical history was unremarkable, and he admitted a long exposure to tobacco smoking and moderate daily alcohol intake. The first ophthalmological evaluation confirmed a bilateral reduction of visual acuity, without other major findings. Visual fields showed a central scotoma in the right eye and a temporal…