Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

Chow-Wing-Bom, Hugo; Callaghan, Martina F.; Wang, Junqing; Wei, Shimin; Dick, Frederick A.; Yu‐Wai‐Man, Patrick; Dekker, Tessa M.

doi:10.1016/j.nicl.2022.103240

Cited by 5 publications

(3 citation statements)

References 83 publications

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“…The MRI findings in our patient were typical of LHON, with atrophy of the optic nerve and cecocentral defects being among the most common features seen on visual field evaluation [ 15 , 16 ]. While the exact prevalence of LHON-plus with essential tremor remains unknown, a case series investigating 46 patients found that 19.5% of them had a postural tremor, indicating that this is not an uncommon presentation of LHON-plus [ 3 ].…”

Section: Discussionmentioning

confidence: 94%

Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome

Kaur,

Ganev,

Rodriguez

et al. 2024

Cureus

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Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder that presents with acute to subacute onset of unilateral progressive optic neuropathy, with sequential involvement of the fellow eye months to years later. The condition may be accompanied by neurological symptoms, including tremors, dystonia, seizures, or psychosis, in which case, it is termed LHON-plus. Here, we present the case of a 53-year-old man who was initially diagnosed with essential tremor but was later found to have LHON-plus after the onset of bilateral visual loss and a genetic panel. His essential tremor was refractory to standard pharmacological therapies, including propranolol, primidone, and topiramate. As a result, he elected to undergo bilateral deep brain stimulation (DBS) of the bilateral ventral intermediate nucleus of the thalamus with a dramatic improvement in symptoms. To our knowledge, this is the first case of essential tremor presenting in the context of LHON-plus to be treated successfully with DBS. While DBS has been applied in LHON-plus presenting with dystonia with limited success, our outcome suggests that there is promise in this approach and that more research is needed to evaluate it.

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Section: Discussionmentioning

confidence: 94%

Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome

Kaur,

Ganev,

Rodriguez

et al. 2024

Cureus

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“…MRI studies revealed several white matter abnormalities, all indicative of cell loss, demyelination, and/or axonal death in stable LHON patients: reduced volume of the optic nerves, chiasm, tracts, LGN, and visual cortex, along with reduced patterns of magnetization transfer ratio and fractional anisotropy, and increased diffusivities in the visual pathways, as compared to healthy controls [ 25 ]. MRI exploration of acute LHON patients (i.e., soon after triggering of the disease) revealed chiasm enlargement and T2 hyperintensities in the optic nerves, which may result from axonal loss, demyelination, and/or gliosis [ 19 , 25 ].…”

Section: Neurodegeneration Patternmentioning

confidence: 99%

The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber’s Hereditary Optic Neuropathy

Layrolle,

Orssaud,

Leleu

et al. 2024

Biomedicines

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Optic neuropathies are characterized by the degeneration of the optic nerves and represent a considerable individual and societal burden. Notably, Leber’s hereditary optic neuropathy (LHON) is a devastating vision disease caused by mitochondrial gene mutations that hinder oxidative phosphorylation and increase oxidative stress, leading to the loss of retinal ganglion neurons and axons. Loss of vision is rapid and severe, predominantly in young adults. Penetrance is incomplete, and the time of onset is unpredictable. Recent findings revealed that the incidence of genetic LHON susceptibility is around 1 in 1000, much higher than believed till now. Environmental factors are critical in LHON triggering or severity. Families at risk have a very strong demand for how to prevent the onset or limit the severity of the disease. Here, we review recent knowledge of the extrinsic determinants of LHON expression, including lifestyle, dietary supplements, common chemicals, and drugs.

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“…Although primarily affecting the anterior visual pathways and occasionally the chiasm, isolated involvement of the optic tracts, albeit rare, should not be overlooked. 1,2 Such cases warrant genetic screening to optimize therapeutic approaches, offer familial genetic counseling, and prevent diagnostic inaccuracies, especially in the context of inflammatory diseases such as the neuromyelitis optica spectrum disorder, myelin oligodendrocyte glycoprotein antibody–associated disease, or glial fibrillary acidic protein astrocytopathy.…”

mentioning

confidence: 99%

Extensive Optic Tracts Involvement in the Acute Phase of Leber Hereditary Optic Neuropathy

Biotti,

Varenne,

Girardie

et al. 2024

Neurology

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Two previously healthy men, aged 52 and 46 years, presented with a similar history of severe synchronous bilateral painless loss of vision occurring over less than a month. A comprehensive workup for optic neuropathy, including repeated testing for anti-myelin oligodendrocyte glycoprotein and anti-aquaporin-4 antibodies (cell-based assay) and CSF analysis, remained unremarkable. Brain MRI revealed T2-hyperintensities limited to the optic tracts (Figures 1 and 2). Genetic testing validated the diagnosis of Leber hereditary optic neuropathy in both patients, identifying homoplasmic pathogenic variants m.3460G>A/MT-ND1 and m.14484T>C/MT-ND6. Treatment with idebenone was initiated upon diagnostic suspicion.

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Neuroimaging in Leber Hereditary Optic Neuropathy: State-of-the-art and future prospects

Cited by 5 publications

References 83 publications

Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome

Deep Brain Stimulation for Medication Refractory Tremor in Leber Optic Neuropathy Plus Syndrome

The Optic Nerve at Stake: Update on Environmental Factors Modulating Expression of Leber’s Hereditary Optic Neuropathy

Extensive Optic Tracts Involvement in the Acute Phase of Leber Hereditary Optic Neuropathy

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