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…
Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis
CONCLUSIONS: LS/LS+ and LHON/LHON+ are the predominant presentations of the m.10197G>A mutation. An older age at onset and greater mutation load increases the probability of an LHON/LHON+ presentation. Patients presenting with LS/LS+ have an exceedingly high possibility of an unfavorable outcome. The identification of factors and outcomes associated with phenotypes in patients with the m.10197G>A mutation facilitates the provision of improved prognostic counseling for patients and their family…
A Case of Leber’s Hereditary Optic Neuropathy With Reversible Symmetric Lesions in the Substantia Nigra
A 34-year-old man with a history of alcoholism experienced progressive vision loss in both eyes over two months. His best corrected visual acuity was 0.1 OD and 0.2 OS, with visual field tests showing central scotoma bilaterally. Fundus examination revealed reddish optic discs with peripapillary telangiectasia in both eyes. Brain MRI showed bilateral high-intensity lesions in the substantia nigra on T2-weighted/Fluid-Attenuated Inversion Recovery (FLAIR) and diffusion-weighted images….
Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices
With the increased availability of genetic testing and the addition of mitochondrial genetic variants on disease panels, accurate genetic counselling for individuals and families affected by, or at risk of, Leber hereditary optic neuropathy (LHON) is becoming increasingly relevant. Challenges in providing genetic counselling for LHON include its mitochondrial inheritance pattern, different haplogroups, incomplete penetrance and that it predominantly affects males. Accurate genetic counselling…
Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report
Introduction. Leber hereditary optic neuropathy (LHON) is a condition characterized by bilateral acute or subacute vision loss in seemingly healthy individuals. Depending on the disease stage and initial presentation, it is often diagnosed as optic neuritis. Elevated levels of endogenous and exogenous glucocorticoids have been associated with the onset of central serous chorioretinopathy (CSCR). In our patient, CSCR developed after only three days of pulse corticosteroid therapy, prescribed due…
Atypical Leber Hereditary Optic Neuropathy (LHON) Associated with a Novel MT-CYB:m.15309T>C(Ile188Thr) Variant
Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up. Complete ophthalmological exam, electrophysiology and optical…
Family and genetic counseling in Leber hereditary optic neuropathy
CONCLUSION: To provide accurate information to families and guide them toward potential supports, treatments and preventive measures, health professionals need to be aware of the factors influencing visual recovery and individual risk of vision loss.