Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person’s teens or twenties, rare cases . A number sign (#) is used with this entry because Leber optic atrophy, also known as Leber hereditary optic neuropathy (LHON), can be caused by mutation in. Descritores: Neuromielite óptica; Atrofia óptica hereditária de Leber; Neurite óptica; DNA mitocondrial; Mutação; Humanos; Masculino; Adulto; Relatos de casos.

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The eye pathology is limited to the retinal ganglion cell layer especially the maculopapillary bundle.

A major focus of the earlier studies was the elucidation of the mode of inheritance of LHON. The fact that only a few patients who abuse tobacco and alcohol develop optic neuropathy has suggested optiac element of individual susceptibility Carroll, Please consider making a donation now and again in the future.

This can be attributed to the impossibility of biopsying the target tissues i.

Leber’s hereditary optic neuropathy – Wikipedia

Handbook of Clinical Neurology. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy.


A pupillary defect may be visible in the acute optca as well. It should be noted that anti-AQP4 is the first water channel specific autoantibody to be identified. A probable case of cytoplasmic inheritance in man: The one with the best kinetic characteristics was cloned into a recombinant adeno-associated virus rAAV vector for delivery and testing in cells and animals.

Avoiding optic nerve toxins is generally advised, especially tobacco and alcohol. Optical coherence tomography can be used for more detailed study of retinal nerve fiber layer thickness. A blood test showed that she had the mtDNA mutation. People most likely to respond best were those treated early in onset.

The primary mutation was not identified in the other families. This typically evolves to very severe optic atrophy and a permanent decrease of visual acuity. Furthermore, the pedigrees did not suggest maternal inheritance.

Services on Demand Journal. Ophthalmol Clin North Am. Variable pattern of visual recovery of Leber’s hereditary optic neuropathy.

Leber’s hereditary optic neuropathy

The patient was initially given the diagnosis of bilateral optic neuritis and, over the last six pptica, he has been submitted to the following tests in the ophthalmology unit: Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA mutation. The purpose of this article was to alert specialists on the possible diagnosis and increase of this impairment under favorable environmental conditions.


The correlation between the mutation and a good visual prognosis provides not only hope for affected patients, but also an approach for further research into the pathogenesis of LHON. Leber’s hereditary optic neuropathy masquerading as retinal vasculitis. Regular corrected visual acuity and perimetry checks are advised for follow up of affected individuals. How to cite this article.

Arch Soc ,eber Oftalmol [citado dic ]; Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Molecular genetics of Leber’s hereditary optic neuropathy: Prog Retin Eye Res. Sequence analysis of the complete mitochondrial genome in patients with Leber’s hereditary optic neuropathy lacking the three most common pathogenic DNA mutations.

The mutation has arisen repeatedly on different mtDNA lineages Singh et al. These and related historical studies were summarized by Ericksonwho concluded that LHON was maternally transmitted.