Leber Hereditary Optic Atrophy
Mostrando 1-7 de 7 artigos, teses e dissertações.
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1. Molecular study of Leber s hereditary optic neuropathy in Brazilian patients / Estudo molecular da neuropatia optica hereditaria de Leber em pacientes brasileiros
Nos seres humanos, a visão é o sentido que retrata com melhor fidelidade o ambiente que os cerca. A ausência do sentido da visão é definida como cegueira. As conseqüências da cegueira são problemas de saúde pública importantes, pois têm um impacto significativamente negativo sobre o desenvolvimento econômico e social dos indivíduos afetados. A p
Publicado em: 2010
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2. Identification of a new human mtDNA polymorphism (A14290G) in the NADH dehydrogenase subunit 6 gene
Leber's hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. Several mutations in different genes can cause LHON (heterogeneity). The ND6 gene is one of the mitochondrial genes that encodes subunit 6 of complex I of the respiratory chain. This gene is a hot spot gene
Brazilian Journal of Medical and Biological Research. Publicado em: 2006-06
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3. Leber's hereditary optic neuropathy: mitochondrial and biochemical studies on muscle biopsies.
Two patients with Leber's hereditary optic neuropathy underwent morphological and biochemical investigations of muscle biopsy samples from the biceps brachii. Although clinically there was no muscle weakness or atrophy, specific histochemical and electron microscopic examinations showed mild but distinct myopathic changes, including abnormal oxidative enzyme
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4. Finger prick blood testing in Leber hereditary optic neuropathy.
Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible
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5. Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD).
DIDMOAD is usually considered an autosomal recessive condition, with wide phenotypic variation, but the possibility of mitochondrial mutations occurring in this condition has been considered. A 19 year old man presented with long standing diabetes mellitus, optic atrophy, and grand mal seizures. Further investigations showed unilateral sensorineural hearing
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6. Leber's hereditary optic atrophy: further evidence for a defect of cyanide metabolism?
We studied one patient with Leber's optic atrophy (LOA) in the acute stage and 12 at the chronic stage of the disease, and measured the activity of rhodanese in white blood cells and the level of cyanide in whole blood. In the patient with acute disease the blood cyanide level was significantly increased at first. Treatment of this patient with cyanide antag
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7. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
Inherited optic neuropathies are a significant cause of childhood and adult blindness and dominant optic atrophy (DOA) is the most common form of autosomally inherited (non-glaucomatous) optic neuropathy. Patients with DOA present with an insidious onset of bilateral visual loss and they characteristically have temporal optic nerve pallor, centrocaecal visua