Leber’s Hereditary Optic Atrophy Some Clinical and Aetiological Considerations

Wilson, John

doi:10.1093/brain/86.2.347

Cited by 92 publications

(22 citation statements)

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“…VBM analysis showed that, compared to healthy controls, patients with LHON experience a significant loss of tissue in the optic pathways, bilaterally, which extends from the optic chiasm, through the optic tracts, and the ORs, to the primary visual cortex. The detection of tissue loss in the optic chiasm and optic tracts in LHON patients is in agreement with the results of a few autopsy studies, which reported destruction of the myelin sheaths and axis cylinders in the fibers subserving macular vision in these structures [Kwittken and Barest, 1958;Wilson, 1963]. Remarkably, we found no GM loss in the lateral geniculate nucleus (LGN), even when the statistical threshold for significance was lowered at a P < 0.001, uncorrected.…”

Section: Discussionsupporting

confidence: 89%

“…Although an increased prevalence of multiple sclerosis-like lesions has been reported in LHON patients [Harding et al, 1992], it is still unclear whether and to what degree the central nervous system (CNS) is damaged in patients with LHON. Postmortem [Wilson, 1963], neurophysiologic [Howell, 1998], and quantitative MR [Inglese et al, 2001a] studies support the notion of a selective and isolated involvement of the optic nerve in this disease. On the contrary, a few preliminary MR spectroscopy (MRS) studies have shown an abnormal mitochondrial energy metabolism in the occipital lobe from these patients [Barbiroli et al, 1995;Cortelli et al, 1991;Lodi et al, 2002].…”

Section: Introductionsupporting

confidence: 58%

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Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

Barcella

Rocca

Bianchi-Marzoli

et al. 2010

Human Brain Mapping

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Patients with Leber's hereditary optic neuropathy (LHON) have loss of central vision with severe damage of small-caliber fibers of the papillomacular bundle and optic nerve atrophy. The aim of this study was to define the presence and topographical distribution of brain grey matter (GM) and white matter (WM) injury in LHON patients using voxel-based morphometry (VBM). The correlation of such changes with neuro-ophthalmologic findings and measurements of peripapillary retinal nerve fiber layer (RNFL) thickness by optical coherence tomography (OCT) was also assessed. Dual-echo and fast-field echo scans were acquired from 12 LHON patients and 12 matched controls. VBM analysis was performed using SPM5 and an ANCOVA model. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary RNFL thickness measurements were obtained in all the patients. Compared with controls, average peripapillary RNFL thickness was significantly decreased in LHON patients. LHON patients also had significant reduced GM volume in the bilateral primary visual cortex, and reduced WM volume in the optic chiasm, optic tract, and several areas located in the optic radiations (OR), bilaterally. Visual cortex and OR atrophy were significantly correlated with average and temporal peripapillary RNFL thickness (P < 0.001; r values ranging from 0.76 to 0.89). Brain damage in patients with LHON is not limited to the anterior visual pathways, but extends posteriorly to the OR and the primary visual cortex. Such a damage to the posterior parts of the visual pathways may be due either to trans-synaptic degeneration secondary to neuroaxonal damage in the retina and optic nerve or to local mitochondrial dysfunction.

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Section: Discussionsupporting

confidence: 89%

Section: Introductionsupporting

confidence: 58%

Evidence for retrochiasmatic tissue loss in Leber's hereditary optic neuropathy

Barcella

Rocca

Bianchi-Marzoli

et al. 2010

Human Brain Mapping

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“…T hey both do not consider neurological m anifestations as an im p o rtan t p a rt of Leber's disease. Wilson (1963), on the other hand, insists th a t the optic atrophy in Leber's disease is th e m inim al objective evidence of a more diffuse disorder of the central nervous system . Genetic aspects were not given since he in tended to discuss these in detail elsewhere.…”

Section: Discussionmentioning

confidence: 99%

A Sex-linked Heredo-degenerative Neurological Disorder Associated with Leber’s Optic Atrophy Genetical Aspects

Went¹

1964

Hum Hered

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“…Because the investigators of these studies only speculated about LHON mode of inheritance without knowledge of the mutation, we assumed that sampling of pedigrees was carried out independently of the matrilineal inheritance pattern. The data consisted of 20 pedigrees mostly ascertained through LHON cases, and also through family members with other neurological disorders (spinocerebellar degeneration, Charcot-Marie-Tooth disease) [Kwittken and Barest, 1958;Wilson, 1963Wilson, , 1965Went, 1964;Adams et al, 1966;Wallace, 1970;Nikoskelainen et al, 1977Nikoskelainen et al, , 1987MullerJensen and Bushart, 1978;McLeod et al, 1978;Johnston et al, 1979;Cotticelli et al, 1984;Novotny et al, 1986;Chen et al, 19891. The objective of our analysis was to test the hypothesis that LHON is maternally transmitted.…”

Section: Examplementioning

confidence: 99%