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…
Visual Loss from Leber’s Optic Neuropathy Presenting in a 76-Year-Old Man with the 14484 Mutations
Leber’s Hereditary Optic Neuropathy (LHON) is an important hereditary optic neuropathy that typically causes bilateral visual loss, predominantly in male patients. While it usually manifests in young adults, it can uncommonly present in older individuals without a family history, potentially leading to diagnostic confusion. The mechanisms underlying why some individuals with these mutations develop optic neuropathy while others remain asymptomatic are still under investigation. Factors such as…
A Case Report of Late-Onset Leber’s Hereditary Optic Neuropathy Diagnosed Following Vision Loss After Cataract Surgery
Leber’s Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder characterized by acute to subacute vision loss, predominantly affecting young males. We report a case of a 65-year-old male diagnosed with late-onset LHON after experiencing significant vision decline following cataract surgery. The patient initially presented with decreased vision in the left eye. His best corrected visual acuity (BCVA) was 20/16 in the right eye and 20/600 in the left eye, with normal intraocular…
Five-year post-onset visual acuity trajectories in Japanese Leber hereditary optic neuropathy: a longitudinal analysis by age, sex, and mtDNA mutation
CONCLUSIONS: In this cohort, onset at ≤19 years was associated with earlier and greater visual recovery, whereas onset at ≥50 years was associated with persistently worse vision. Age at onset is an important modifier of 5-year visual prognosis in bilaterally affected LHON.
Leber Hereditary Optic Neuropathy Caused by the Rare MT-ND1 m.3394T>C Mutation: A Case With Favorable Visual Prognosis and a Literature Review
Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial optic neuropathy characterized by acute or subacute painless central visual loss. Most cases are associated with three primary mitochondrial DNA mutations; however, rare variants remain incompletely characterized. Early diagnosis is essential for appropriate management and genetic counseling. We report the case of a 51-year-old Lithuanian woman who presented with painless, progressive central visual loss. Initial neurological…
A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy
Leber’s hereditary optic neuropathy (LHON) is a hereditary neurodegenerative disorder caused by pathogenic mitochondrial DNA (mtDNA) variants. While MT-CO2 defects are implicated in neurodegeneration, their direct association with optic atrophy has not been reported. We identify a heteroplasmic MT-CO2 variant, m.8024G > A (p.Glu147Lys), in a patient with progressive optic atrophy and explore its potential association with mitochondrial dysfunction. A 13-year-old male with progressive…