Neurological Studies in Families With Leber's Optic Atrophy

Weerdt, C. J. de; Went, L. N.

doi:10.1111/j.1600-0404.1971.tb07507.x

Cited by 36 publications

(5 citation statements)

References 16 publications

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“…The finding of 5 individuals with an optic atrophy and a neurological MS like picture is in agreement with previous findings [10,23] of 5 other patients with LON and a simultaneous diagnosis of probable MS in the Netherlands. In the 29 pedigrees, presently known to us, a total of about 500 patients with LON have been found; of these approximately half were living at the time of our studies.…”

Section: Discussionsupporting

confidence: 82%

Studies on Leber's optic neuropathy III

1989

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Neurological investigations, HLA-typing and viral antibody studies were performed in patients with Leber's optic neuropathy (LON), in individuals at risk to develop the disease, in obligatory (female) carriers of the disease, and compared with controls. The only relevant findings were an excess of minor neurological abnormalities in patients with LON and in some individuals from the at risk group. Occasionally, an association of LON and a multiple sclerosis-like picture was observed.

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Section: Discussionsupporting

confidence: 82%

Studies on Leber's optic neuropathy III

1989

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“…This association was correlated to how closely they were related to the LHON patient. 21 In the present study, unaffected family members were not associated with an increased incidence of neurologic symptoms or neuropathy. This could be caused by a lack of subdivision according to closeness of the relation to the LHON patient.…”

Section: Discussionmentioning

confidence: 57%

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Vestergaard

Rosenberg

Torp‐Pedersen

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease in which optic neuropathy is considered a key feature. Several other manifestations of LHON have been reported; however, only little is known of their incidence and the life expectancy in LHON patients.METHODS. This study, based on Danish nationwide health registries, included 141 patients diagnosed with LHON and 297 unaffected family members in the maternal line. The incidence of comorbidities and mortality for patients with LHON and unaffected family members was compared with that in the general population.RESULTS. Having LHON was associated with an almost 2-fold risk of mortality with a rate ratio (RR) of 1.95 (95% confidence interval [CI]: 1.47-2.59; P < 0.001). The incidence of several diseases was increased for LHON patients, but not for family members. The incidence of stroke was 5.73 per 1000 patient-years for LHON patients compared to 2.33 for the general population, and the RR was 2.38 (95% CI: 1.58-3.58; P < 0.001). The incidence of demyelinating disorders was 2.24 compared to 0.21 for the general population; RR was 12.89 (95% CI: 6.70-24.77; P < 0.001). A 4-fold risk of dementia was seen for LHON patients (RR: 4.26, 95% CI: 1.91-9.48; P < 0.001), incidence 1.45 for LHON and 0.37 for the general population. Moreover, LHON patients had an increased risk of epilepsy, atherosclerosis, nerve symptoms, neuropathy, and alcohol-related disorders.CONCLUSIONS. The manifestation of LHON was associated with increased mortality and increased incidence of several disorders including stroke, demyelinating disorder, dementia, and epilepsy.

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“…It typically manifests as an acute or subacute loss of central vision, a result of optic atrophy secondary to severe damage of retinal ganglion cells (18). The accompanying abnormalities, mainly neurological disorders, have also been reported in some patients (19). Three particular variants of G11778A, T14484C, G3460A in mtDNA are confirmed as primary mutations and explain over 95% of LHON patients worldwide (20)(21)(22).…”

Section: Discussionmentioning

confidence: 99%

Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

Sun

Feng

et al. 2022

Front. Med.

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The T12811C mitochondrial DNA (mtDNA) mutation has been reported in Leber hereditary optic neuropathy (LHON) previously, with vision loss as the main manifestation. The involvement of other organ systems, including the central and peripheral nervous system, heart, and extraocular muscles, has not been well described. This case series report investigated four patients with T12811C mtDNA mutation, verified through a next generation sequencing. Two male patients presented with bilateral subacute visual decrease combined with involvement of multiple organ systems: leukoencephalopathy, hypertrophic cardiomyopathy, neurosensory deafness, spinal cord lesion and peripheral neuropathies. Two female patients presented with progressive ptosis and ophthalmoplegia, one of whom also manifested optic atrophy. This study found out that patients harboring T12811C mtDNA mutation manifested not only as vision loss, but also as a multi-system disorder affecting the nervous system, heart, and extraocular muscles.

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Neurological Studies in Families With Leber's Optic Atrophy

Cited by 36 publications

References 16 publications

Studies on Leber's optic neuropathy III

Studies on Leber's optic neuropathy III

Increased Mortality and Comorbidity Associated With Leber's Hereditary Optic Neuropathy: A Nationwide Cohort Study

Varying Clinical Phenotypes of Mitochondrial DNA T12811C Mutation: A Case Series Report

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