Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

Perez, Francisco I.; Anne, Olivier; Debruxelles, Sabrina; Ménégon, Patrice; Lambrecq, Virginie; Lacombe, Didier; Martin‐Négrier, Marie‐Laure; Brochet, Bruno; Goizet, Cyril

doi:10.1016/j.clineuro.2008.06.021

Cited by 39 publications

(25 citation statements)

References 15 publications

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“…Such CSF OCBs or elevated IgG have been reported in 15/ 17, 1/3, and 1/1, LHON patients with 11778, 3460 and 14484 mutations respectively with associated MS [6,10]. Specific up regulation of the plasma protein Apo A-IV has been reported in LHON CSF, different CSF proteins were found in MS patients, however CSF from patients with Harding's disease was not tested in this study [11].…”

Section: Csfcontrasting

confidence: 48%

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

Palace

2009

Journal of the Neurological Sciences

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Section: Csfcontrasting

confidence: 48%

Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy

Palace

2009

Journal of the Neurological Sciences

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“…25 Based on our own experience, this is a difficult and emotive issue, and the data are insufficient to offer clear guidance at present. Having said that, idebenone is safe in LHON, could prevent visual disability, and it led to visual improvement in one 26 of two reported case reports with LHON-MS. 26,27 Others reported the use of mitoxantrone, 27,28 with improvement in one patient. 28 Mitoxantrone is considered to be a therapeutic option in severe MS for selected patients, but its use is difficult to justify because of its severe short- and long-term adverse reactions in the context of safer alternatives.…”

Section: Discussionmentioning

confidence: 97%

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

et al. 2013

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Objective:To determine whether the association between multiple sclerosis (MS) and Leber hereditary optic neuropathy (LHON) (known as “Harding disease”) is a chance finding, or the 2 disorders are mechanistically linked.Methods:We performed a United Kingdom–wide prospective cohort study of prevalent cases of MS with LHON mitochondrial DNA (mtDNA) mutations. The new cases were compared with published cases, enabling a comprehensive clinical description. We also performed a meta-analysis of studies screening patients with MS for LHON mtDNA mutations to find evidence of a genetic association.Results:Twelve new patients were identified from 11 pedigrees, and 44 cases were identified in the literature. The combined cohort had the following characteristics: multiple episodes of visual loss, predominance for women, and lengthy time interval before the fellow eye is affected (average 1.66 years), which is very atypical of LHON; conversely, most patients presented without eye pain and had a poor visual prognosis, which is unusual for optic neuritis associated with MS. The number of UK cases of LHON-MS fell well within the range predicted by the chance occurrence of MS and the mtDNA mutations known to cause LHON. There was no association between LHON mtDNA mutations and MS in a meta-analysis of the published data.Conclusions:Although the co-occurrence of MS and LHON mtDNA mutations is likely to be due to chance, the resulting disorder has a distinct phenotype, implicating a mechanistic interaction. Patients with LHON-MS have a more aggressive course, and prognostication and treatment should be guarded.

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“…Unilateral affection is extremely rare and MS-like symptoms may be present, especially in women [24,25 ]. Mitochondrial DNA analysis may be conclusive [24].…”

Section: Other Optic Neuropathiesmentioning

confidence: 94%