A case report of atypical optic neuritis
Optic neuritis is a severe blinding ocular disease, and identifying its etiology is crucial for selecting appropriate treatment strategies and evaluating patient prognosis. This paper reports the clinical data of a patient initially presenting with unilateral visual decline who was ultimately diagnosed with bilateral atypical optic neuritis. The patient was a 40-year-old male who presented with decreased vision in the left eye for 2 weeks. Fundus examination at admission revealed bilateral optic…
The m.14484T>C MT-ND6 Mutation Presenting with a Hereditary Spastic-Paraparesis Phenotype
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Progressive Visual Recovery in a Patient with Leber Hereditary Optic Neuropathy Harboring a Rare Heteroplasmic (MT-ND5):m.13042G>A, p(Ala236Thr) Variant with Low Mutant Load: A Case Report
CONCLUSION: In patients with a strong clinical suspicion of LHON, complete mitochondrial genome sequencing should be considered when initial testing, typically limited to the three primary mutations, is negative. Furthermore, the diagnosis of LHON should not be dismissed if “low” blood mutant loads are found, as important discrepancies of heteroplasmy levels between different tissues have been reported for variants located in the mitochondrial ND5 gene.
Leber hereditary optic neuropathy (LHON) in a 6-year-old boy with a transient spinal cord lesion
CONCLUSION: Since optic neuropathy and spinal cord involvement typically indicate demyelinating diseases, these should be prioritized in initial evaluation due to their frequency and need for early immunomodulatory treatment. However, spinal cord involvement can occur in mitochondrial diseases, as demonstrated in this case. The presence of a transient and asymptomatic spinal cord lesion in this patient expands the recognized spectrum of central nervous system involvement in LHON. Therefore,…
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…