Clinical features and temporal trends in a large Japanese LHON cohort, 1995-2024: a retrospective study
CONCLUSIONS: Age at onset increased over time, whereas sex ratio and m.11778 G > A predominance remained stable. Wider availability of genetic testing, together with improved recognition of optic neuropathy in routine practice, may have reduced under-recognition in older adults, partly explaining the upward shift in age at onset.
Nasal-Predominant Ganglion Cell-Inner Plexiform Layer Thinning Distinguishes Early-Stage Leber Hereditary Optic Neuropathy From Acute Optic Neuritis
CONCLUSION: Acute-phase OCT reveals nasal-predominant GCIPL thinning in LHON. This pattern differentiates LHON from DN-ON and MOG-ON but is less distinct from AQP4-ON. Nasal GCIPL thickness, alone or combined with clinical covariates, may aid differential diagnosis in acute presentations.
Letter to the Editor: Comment on Takai et al.’s “Age-Associated Differences in Optic Disc Findings of Leber’s Hereditary Optic Neuropathy”
This letter comments on the study by Takai et al examining age-related differences in acute phase optic disc morphology in Leber hereditary optic neuropathy. We highlight methodological considerations in subjective fundus photograph assessment, and discuss additional factors such as refractive status and timing of presentation that may influence the presence of optic disc edema. These points may aid in refining phenotypic interpretation in future LHON studies.
Gene Therapy for Leber Hereditary Optic Neuropathy (LHON): A Systematic Review and Meta-Analysis
CONCLUSIONS: rAAV2/2-ND4 is a moderately effective and safe treatment for LHON, though long-term outcomes and predictors of response remain unclear.
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.