Genetic Features and Clinical Heterogeneity of Leber Hereditary Optic Neuropathy in Adolescent and Adult Patients: A Case Series on Arab Patients
Leber hereditary optic neuropathy (LHON) is a rare disorder characterized by painless progressive visual loss. LHON is caused by maternally inherited mitochondrial DNA (mtDNA) point mutations, impairing the electron transport chain and oxidative phosphorylation. Environmental and nuclear factors may further influence disease manifestation. This case series describes the clinical characteristics, mutation profiles, and visual outcomes in patients from Saudi Arabia and Yemen, regions where…
Omics in hereditary optic neuropathies:A systematic review of clinical studies with an integrated point of view
Hereditary optic neuropathies are characterized by bilateral visual loss due to the degeneration of retinal ganglion cells, resulting in optic nerve degeneration and atrophy. Although the genetic origin of the main isolated and syndromic hereditary optic neuropathies have been characterized, the clinical phenotypes exhibit significant and poorly understood variability in both penetrance and expressivity. Additionally, the genetic and environmental factors that influence the onset of these optic…
Ten-year natural history of visual function in Japanese patients with Leber hereditary optic neuropathy: A retrospective cohort study
Leber hereditary optic neuropathy (LHON) is a mitochondrial optic neuropathy that typically causes severe bilateral central vision loss. Although several natural-history studies have reported visual outcomes, long-term trajectories beyond 5 years remain incompletely quantified, particularly in Asian cohorts. We performed a single-center retrospective cohort study at a tertiary eye hospital in Japan. Among 174 genetically confirmed LHON patients, we identified 27 patients (53 eyes) who presented…
Efficacy of lenadogene nolparvovec gene therapy versus idebenone in Leber hereditary optic neuropathy due to the m.11778G>A MT-ND4 variant: two matching adjusted indirect comparisons
CONCLUSION: The two MAICs demonstrated a clinically meaningful higher visual recovery at 24 months with lenadogene nolparvovec than with idebenone in patients with LHON due to the m.11778G>A MT-ND4 variant.
Branch retinal vein occlusion in Leber hereditary optic neuropathy with onset at age 50 years or older: frequency and clinical characteristics
CONCLUSION: In this older-onset LHON cohort, BRVO was observed in four patients and detailed case-level characteristics are presented. The indirect standardized comparison suggests a tendency toward higher standardized BRVO prevalence; however, this prevalence-based analysis is not adjusted for vascular risk profiles and should be interpreted as hypothesis-generating.
LEBER HEREDITARY OPTIC NEUROPATHY: A CASE REPORT OF CONCURRENT RARE MITOCHONDRIAL MUTATIONS AND ABCA4 NUCLEAR GENE MUTATION
PURPOSE: This case report aimed to describe the clinical presentation of a 21-year-old male patient with subacute bilateral painless vision loss, clinically consistent with Leber hereditary optic neuropathy (LHON), a mitochondrially inherited disorder and to investigate the genetic mutations associated with this condition.
Leber Hereditary Optic Neuropathy in the Elderly: A Case Report
CONCLUSION: This case represents the oldest reported patient to date with LHON due to the m.14484T>C mutation. Despite the mutation’s typical association with better visual outcomes, the patient experienced progressive vision loss with no recovery. This case underscores the importance of considering LHON in elderly patients with bilateral optic neuropathy and highlights the potential impact of age and environmental exposures on disease expression and prognosis.
Optimized ND4 allotopic expression for gene therapy of Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is a mitochondrial disorder characterized by central vision loss, primarily resulting from mutations disrupting the electron transport chain. The most prevalent LHON-causing mutation is mt.11778G>A in the mitochondrial MT-ND4 gene, which encodes a critical subunit of complex I. Allotopic expression, a promising gene therapy strategy, aims to deliver a functional nuclear version of ND4 into the cell nucleus and target the resulting protein to the…
Leber hereditary optic neuropathy triggered by the AstraZeneca coronavirus disease 2019 vaccination
Leber hereditary optic neuropathy (LHON) is a rare mitochondrial disorder primarily affecting young males, characterized by progressive vision loss due to retinal ganglion cell degeneration. LHON is typically associated with specific mitochondrial mutations with potential triggers such as environmental factors and, more recently, postvaccination complications. We present a case of a 35-year-old male who experienced LHON onset 3 weeks following administration of the AstraZeneca Coronavirus…
Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning
Primary mitochondrial disorders are clinically and genetically heterogeneous and remain underdiagnosed in resource-limited settings. We performed a retrospective observational study (March 2016-January 2024) at a tertiary neurology center in Eastern India to characterize the clinical, biochemical, neuroimaging, electrophysiological, and molecular features of suspected mitochondrial disease and to explore interpretable machine-learning approaches for syndromic stratification. Forty-eight patients…