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At least 19 recordsLinked to original sources
PubMed1989

Leber's hereditary optic atrophy.

Leber described a particular type of hereditary optic atrophy in 1871. The clinical features of all cases since reported are reviewed. There is characteristically acute visual loss, circumpapillary teleangiectatic micropathy, tortuosity of the retinal vessels and oedema in the retinal nerve fibres. 85% of those affected are male, but affected fathers do not transmit the condition to their children. The exact mode of inheritance is still obscure but it is suggested that inheritance may be mitochondrial; enlarged subsarcolemmal mitochondria in LOA patients have been described. Colour vision defects are observed not only in patients, but also in presumed carriers. Electrophysiological investigations demonstrate optic nerve damage, but are not indicative of any particular pathology. It has been reported that in many cases of LOA the severity of the disease is related to tobacco smoking. Increased cyanocobalamin blood levels in patients and increased cyanide blood levels support this hypothesis.

Electroretinography↗
PubMed1977

The early phase in Leber hereditary optic atrophy.

Clinical, ophthalmoscopic, perimetric, and color vision tests and visual evoked responses were recorded in symptomatic and asymptomatic eyes in five members of a family with Leber hereditary optic atrophy. The presymptomatic eyes showed abnormalities in the retinal nerve fiber layer. Optic nerve dysfunction was found before central vision failed. The appearance of degenerating retinal nerve fibers, particularly in the papillomacular bundle, was documented photographically in the weeks after the onset of visual symptoms. Treatment with prednisone and hydroxocobalamin did not reverse or halt serious impairment of vision.

Adolescent↗
PubMed1997

Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.

We developed a diagnostic test based on the reverse dot-blot principle, in which five mitochondrial point mutations responsible for Leber hereditary optic neuropathy (LHON) were screened simultaneously. A series of wild-type and mutant oligonucleotides representing each mutation were covalently bound to a single nylon membrane strip. The target sites were amplified in a multiplex PCR and the products were hybridized to the membrane. Detection is based on chemiluminescence. To test the developed assay, 47 patients suspected of having LHON were screened. In 11 cases (23%) the diagnosis of LHON could be confirmed (3460, 1; 9804, 1; 11778, 5; 14484, 3; 15257, 1). The results suggest that the clinical identification of the mitochondrial defect is not trivial and the availability of a rapid screening method simplifies the molecular analysis of these cases.

DNA Mutational Analysis↗
PubMed2001

[Leber's optic neuropathy].

Leber hereditary optic neuropathy is associated to mutations of the mitochondrial DNA that seem to be pathogenic of this disease. However, other genetic or environmental factors must play a role in the development of this optic atrophy. Leber hereditary optic neuropathy is usually isolated. Its typical clinical feature includes in a young man a sudden and severe decrease of vision of one eye. The second eye is affected few weeks later. But, atypical feature can be observed. Thus, this diagnosis must be suspected as soon as there is no evident aetiology for an optic neuropathy, whatever the clinical feature, the age or the sex of the patient can be. There is no treatment. But visual recovery can spontaneously occurred even years after the disease appearance.

Adult↗
PubMed1991

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

Leber hereditary optic neuroretinopathy (LHON) is a maternally inherited disease, probably transmitted by mutations in mtDNA. The variation in the clinical expression of the disease among family members has remained unexplained, but pedigree data suggest an involvement of an X-chromosomal factor. We have studied genetic linkage of the liability to develop optic atrophy to 15 polymorphic markers on the X chromosome in six pedigrees with LHON. The results show evidence of linkage to the locus DXS7 on the proximal Xp. Tight linkage to the other marker loci was excluded. Multipoint linkage analysis placed the liability locus at DXS7 with a maximum lod score (Zmax) of 2.48 at a recombination fraction (theta) of .0 and with a Zmax - 1 support interval theta = .09 distal to theta = .07 proximal of DXS7. No evidence of heterogeneity was found among different types of families, with or without a known mtDNA mutation associated with LHON.

Adult↗
PubMedDate not supplied

Is all nondefinable optic atrophy Leber's hereditary optic neuropathy?

Leber's hereditary optic neuropathy has been considered a bilateral, sequential hereditary optic neuropathy occurring overwhelmingly in young men. Until recently the diagnosis has been based on clinical criteria: severe loss of vision associated with central scotomas and classic ophthalmoscopic findings (circumpapillary telangiectatic microangiopathy, pseudoedema of the disk with absence of staining on fluorescein angiography, tortuous vessels in the early stages and eventually optic disk pallor). In 1988 a genetic mutation associated with Leber's hereditary optic neuropathy affecting mitochondrial DNA was recognized. Subsequently other mutations have been discovered as well. The ability to identify these patients technically has allowed us to recognize cases that do not fit our previous clinical criteria. One such case is presented and the question asked is whether the findings are related to the clinical course.

Child↗
PubMed1983

Clinical and biochemical findings in Leber's hereditary optic atrophy.

Clinical findings in Leber's hereditary optic atrophy (LHOA) are reviewed and the results given of treatment with a regimen based on the hypothesis that the disease is a manifestation of cyanide toxicity. Recent biochemical investigations confirm disturbed cyanide metabolism and suggest that zinc deficiency may be implicated.

Adolescent↗
PubMed2004

[Leber's hereditary optic atrophy: neurological and other non-optic appearances].

Comparing to other mitochondrial diseases, multisystemic lesions in Leber's hereditary optic atrophy (LHOA) occur less frequently. However, in some cases there are concomitant manifestations, especially neurological ones. Out of thirteen patients examined in the study, 5 exhibited MRI-detected neurological symptoms and changes, which may have concern to the underlying disease, namely LHOA caused by 11778A mutation. Literature and author's own data on neurological spectrum of LHOA and its possible relation to multiple sclerosis are summarized. A rare combination of LHOA caused by 14484C mutation and diabetes mellitus, described first-ever in the present study, is emphasized.

Adolescent↗