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),…
The rAAV2-ND1 gene therapy for Leber hereditary optic neuropathy
CONCLUSION: Preliminary clinical evidence shows that rAAV2-ND1 ophthalmic injection is a safe and effective treatment for LHON due to ND1 mutation.
Leber Hereditary Optic Neuropathy “Plus” with the m.14487 T>C Mutation as the Causality of Hemidystonia: A Case Report
CONCLUSION: The m.14487 T>C mutation is one of the causative mutations in patients with dystonia or Leigh encephalopathy and a minor mutation in patients with LHON. However, in the present case, ocular symptoms were more severe than systematic symptoms and the disease course was consistent with LHON. For the above reasons, this case can be diagnosed as LHON plus. Whole mtDNA sequencing is important in diagnosing LHON if none of the three major mutations are detected.
Leber’s hereditary optic neuropathy – current status of idebenone and gene replacement therapies
Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial disease, and was the first to be linked to mitochondrial DNA (mtDNA) variations. Recently, autosomal recessive forms of LHON were described in addition to the classical mtDNA-associated forms. Clinically, LHON manifests with subacute and painless loss of central visual acuity, in most cases starting unilaterally, and involving the second eye a few weeks later. Almost all LHON cases are caused by pathogenic variants in…
An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy
Electrical stimulation (ES) may be effective for intractable retinal or optic nerve diseases. We studied frequent transcutaneous ES in a single-center, single-arm prospective study in patients with Leber hereditary optic neuropathy (LHON) who carry the mitochondrial (mt) 11778 G > A mutation. A 30-min ES was applied to either eye every other day for 12 weeks. The primary outcome was the difference in the logarithm of the minimum angle of resolution (LogMAR) at baseline and 1 week after…