Leber hereditary optic neuropathy (LHON): a mitochondrial disease with unresolved complexities

Went, L. N.

doi:10.1159/000015370

Cited by 12 publications

(3 citation statements)

References 19 publications

(33 reference statements)

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“…The present family, in which all investigated members carried a homoplasmic 11778 mtDNA mutation, underlines a number of unanswered questions about LHON, such as different phenotypic presentation, different ages of onset, affected and spared members in the same family despite homoplasmic mtDNA mutation, and the role of toxic or environmental factors [5]. The clinical presentation and the age of onset of symptoms of the index case were atypical of LHON and more consistent with anterior ischemic optic neuropathy.…”

Section: Introductionmentioning

confidence: 82%

Leber Hereditary Optic Neuropathy in 2 of 4 Siblings with 11778 mtDNA Mutation: Clinical Variability or Effect of Toxic Environmental Exposure?

Rufa

Dotti²,

Cardaioli³

et al. 2004

Eur Neurol

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Although mitochondrial (mt) DNA mutation at nucleotide position 11778 accounts for most cases of Leber’s hereditary optic neuropathy (LHON), the phenotypic expression may vary greatly even in different members of the same family. The possible influence of exogenous toxicity on phenotypic expression is still debated in LHON. Here we describe 4 siblings carrying the 11778 mtDNA mutation with a different phenotype. The index case developed an atypical optic neuropathy at the age of 60 years after a long history of occupational exposure to polycyclic aromatic hydrocarbons (PAHs). This report underlines a number of unanswered questions about phenotypic variability of LHON including the possible influence of PAH toxicity.

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Section: Introductionmentioning

confidence: 82%

Leber Hereditary Optic Neuropathy in 2 of 4 Siblings with 11778 mtDNA Mutation: Clinical Variability or Effect of Toxic Environmental Exposure?

Rufa

Dotti²,

Cardaioli³

et al. 2004

Eur Neurol

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“…[75][76][77][78][79][80][81] In others, pathogenic significance remains unclear. 5,19,79 Among the primary mutations, the LHON clinical phenotype is remarkably similar. The only consistent differentiating feature is the better prognosis for visual outcome in those patients with the 14484 mutation.…”

Section: Optic Atrophymentioning

confidence: 99%

“…The presence of an mtDNA mutation is necessary for phenotypic expression, but it is not sufficient. 19,20,51,78,79 Mitochondrial DNA exhibits much greater polymor- phism than nuclear DNA because of more rapid accumulation of mutations. The presence of an mtDNA mutation in patients with a specific disease entity does not necessarily indicate a primary or even any pathogenic role for that mutation, and the criteria for assigning pathogenicity to an mtDNA mutation must always be kept in mind.…”

Section: Optic Atrophymentioning

confidence: 99%

Neuro-ophthalmology of Mitochondrial Diseases

Biousse

Newman²

2001

Semin Neurol

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The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.

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