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.
Response to: DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome
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Nanoengineered mitochondria enable ocular mitochondrial disease therapy via the replacement of dysfunctional mitochondria
Leber’s hereditary optic neuropathy (LHON) is an ocular mitochondrial disease that involves the impairment of mitochondrial complex I, which is an important contributor to blindness among young adults across the globe. However, the disorder has no available cures, since the approved drug idebenone for LHON in Europe relies on bypassing complex I defects rather than fixing them. Herein, PARKIN mRNA-loaded nanoparticle (mNP)-engineered mitochondria (mNP-Mito) were designed to replace dysfunctional…
Idebenone Protects Photoreceptors Impaired by Oxidative Phosphorylation Disorder in Retinal Detachment
CONCLUSIONS: OXPHOS disorder leads to photoreceptor degeneration after RD, which can be alleviated by improving OXPHOS function.