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.

Author: Mikalkis Douzahn
Country: Nigeria
Language: English (Spanish)
Genre: Love
Published (Last): 17 January 2018
Pages: 201
PDF File Size: 7.71 Mb
ePub File Size: 3.90 Mb
ISBN: 518-9-97430-438-5
Downloads: 47794
Price: Free* [*Free Regsitration Required]
Uploader: Bakazahn

optiva AQP4 is considered the predominant water channel in the brain and spinal cord, and also in the skeletal muscles 4,5. Gene-environment interactions in Leber hereditary optic neuropathy. Nine other mutations have been found at increased frequencies in LHON patients, but generally in conjunction with one of these primary mutations. The mutation occurred in 6 of the LHON families. A year-old male was brought to our medical attention complaining of visual loss.

Leber’s disease in the Netherlands. Imai and Moriwaki suggested that LHON might be cytoplasmically transmitted, a hypothesis again enunciated by Ronne Maternal inheritance of human mitochondrial DNA. The energy defect was most pronounced in fibroblasts ootica patients with additional neurologic symptoms.

A blood test revealed the mtDNA mutation. LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. Using ‘allotopic expression,’ a technique in which a mitochondrial gene is expressed in the nucleus and the protein product is then imported back to the mitochondria, Guy et al.

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Leber’s hereditary optic neuropathy LHON or Leber hereditary optic atrophy is a mitochondrially inherited transmitted from mother to offspring degeneration of retinal ganglion cells RGCs and their axons that leads to an acute or subacute loss of central vision; this affects predominantly young adult males. Two maternal uncles had had similar patterns of visual loss.

  CATALOGO UNIPAPEL 2012 PDF

The degree of heteroplasmythe percentage of mitochondria which have mutant allelesmay play a role. Unfortunately, it is not free to produce. La Morgia et al. Conjunctivitis allergic Pterygium Pinguecula Subconjunctival hemorrhage. Prog Retin Eye Res. These differences reached statistical significance in patients carrying the mutation, whereas only a trend was detected in those with the mutation.

Observations in groups of patients with other mutations indicated that the clinical severity is dependent on the mitochondrial genotype. Diseases of the human eye H00—H59 — In the acute stage, lasting a few weeks, the affected eye demonstrates an oedematous appearance of the nerve fiber layer especially in the arcuate bundles and enlarged or telangiectatic and tortuous peripapillary vessels microangiopathy.

Its diagnosis used to be solely clinical, aided by imaging and neurophysiological studies, until the advent of descriptions of mitochondrial biochemical abnormalities and genetic testing.

Leber’s hereditary optic neuropathy

The localization of AQP4 in the spinal cord is consistent with the immunopathology of NMO, which involves inflammation at both the gray and white matter regions, and for unknown reasons, it is largely restricted to the spinal cord and optic nerves 4. Leber’s Hereditary Optic Neuropathy: Molecular analysis detected a homoplasmic G-A mutation in blood and spinal cord. Optic Atroofia See description of phenotype above. The primary mutation was not identified in the other families.

No specific financial support was available for this study. Asthenopia Hemeralopia Photophobia Scintillating scotoma. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? From Ee, the free encyclopedia.

Leber’s hereditary optic neuropathy – Wikipedia

He noted leer vision was progressively worsening over time. Leber’s optic atrophy, a possible example of maternal inheritance. Oxidative phosphorylation uses a series of four large multienzyme complexes, which are all embedded in the inner mitochondrial membrane to convert oxygen and simple sugars to energy. Optic neuropathy induced by reductions in mitochondrial superoxide dismutase. Cytochrome c oxidase mutations in Leber hereditary optic neuropathy.

  CINEANTROPOMETRIA DEFINICION PDF

A subsequent electroporation with wildtype ND4 prevented both RGC loss and the impairment of visual function. He underwent a first neuro-ophthalmic consultation two months after onset of symptoms.

In other projects Wikimedia Commons. How to cite this article. No proven therapeutic fe have been found.

Retrieved 8 December Slit lamp examination was opticca. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. One pedigree had an affected grandmother and granddaughter through an unaffected carrier; the females in all 3 generations had the mutation. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. From an empirical standpoint, most if not all patients will receive an initial diagnosis of optic neuritis and will be treated, without any response, using steroid therapy at high doses.

The results suggested that the mutation at np should be included in a routine screening, as well as the ND6 genea hotspot for LHON mutations. Most forms of genetic and epigenetic transmission together with environmental factors have been considered Adams et al.

Light and electron microscopy revealed preferential loss of the smallest axons corresponding to the P-cells, the arofia retinal ganglion cells. Idebenone is a short-chain benzoquinone that interacts with the mitochondrial electron transport chain to enhance cellular respiration.

Five of these are generally felt to be ‘primary’ mutations, the presence of which greatly increases the probability of blindness.