ATROFIA OPTICA DE LEBER PDF

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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Rosaralis Santiesteban Freixas, I Dra.

It predominates in young men and is caused by mitochondrial DNA spot mutations. This is one attofia the most common hereditary and highly disabling optic neuropathy, the precise diagnosis of which is based on the molecular studies.

Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

The purpose of this article was to alert specialists on the possible diagnosis and increase of this impairment under favorable environmental conditions. A computerized search of scientific articles related to the subject was made in Hinari and PUBMED, which resulted in 37 publications during the years through Several disease aspects such as historical background, risk factors, epidemiology, genetics, clinical atroria, diagnosis and treatment were studied and discussed, in lebre to delving into current status of the disease in our country.

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The rise of incidence was probably due to environmental conditions that favor or are risk factors for this entity, as occurred during the last epidemic of optic neuropathy in Cuba.

Every day there are more attofia in the field of genetics that allows identifying a higher number of mutations associated with this disease. This event together with advanced knowledge of its clinical features has made it possible to identify the affected atgofia and to control the risk factors. El grado de heteroplasmia de un paciente determina si va a tener o no la enfermedad.

Mitochondrial dysfunction as a cause of optic neuropathies.

Leber’s hereditary optic neuropathy – Wikipedia

Prog Retin Eye Res. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet.

Biochem Biophys Res Commun. Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy. X- inactivation patterns in females harbouring mtDNA mutations that cause Leber hereditary optic neuropathy.

Leber’s Hereditary Optic Neuropathy: Optic Nerve Degeneration and Mitochondrial Dysfunction: Genetic and Acquired Optic Neuropathies. The epidemiology of Leber hereditary optic neuropathy in the North East of England.

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Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet.

The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the mutation. Criterios y Tendencias actuales. Leber Hereditary Optic Neuropathy.

Leber’s hereditary optic neuropathy

Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids.

Invest Ophthalmol Vis Sci.

Inv Ophthalmol Vis Sci. From the Mitochondria to the Optic Nerve. Association of optic disc size with development and prognosis of Leber’s hereditary optic neuropathy. Pre-excitation syndrome in Leber’s hereditary optic neuropathy. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus.

Multiple sclerosis associated atorfia Leber’s Hereditary Optic Neuropathy. Arch Soc Esp Oftalmol [citado dic ]; Comparison of retinal nerve fibre layers between and mutations in Leber’s hereditary optic neuropathy. Arch Soc Esp Oftalmol. Treatment of Leber’s hereditary optic neuropathy: Calle 29 esquina a D