نتایج جستجو برای: leber hereditomy optic neurophaty

تعداد نتایج: 46273  

Journal: :Optics letters 2004
Nader A Issa Martijn A van Eijkelenborg Matthew Fellew Felicity Cox Geoff Henry Maryanne C J Large

We report the fabrication of what are believed to be the first microstructured optical fibers with uniformly oriented elliptical holes. A high degree of hole ellipticity is achieved with a simple technique that relies on hole deformation during fiber draw. Both form and stress-optic birefringence are characterized over a broad wavelength range. These measurements are in excellent agreement with...

Journal: :Journal of the neurological sciences 2009
Jacqueline Palace

The cause of multiple sclerosis is unknown although it is recognised to involve an inflammatory process associated with demyelinating plaques and more widespread neurodegeneration. It appears to have become progressively more common in females which is further discussed in this issue, and genetic factors, as identified to date, appear to play only a moderate role. One curious observation is tha...

2010
Yi Wei Goh Alex Buller

This is a case report of a patient with unilateral nyctalopia in whom ipsilateral optic disc drusen were the only finding despite extensive investigation.

Journal: :Trends in genetics : TIG 2013
G Jane Farrar Naomi Chadderton Paul F Kenna Sophia Millington-Ward

It has become evident that many human disorders are characterised by mitochondrial dysfunction either at a primary level, due to mutations in genes whose encoded products are involved in oxidative phosphorylation, or at a secondary level, due to the accumulation of mitochondrial DNA (mtDNA) mutations. This has prompted keen interest in the development of cell and animal models and in exploring ...

Journal: :Ophtalmologie : organe de la Societe francaise d'ophtalmologie 1989
P Castier P Francois R Asseman B Hemery A M Deleforge

233 personal cases of leber's optic neuropathy have been analyzed by the authors in order to present clinical symptoms, evolution and genetic aspects. A group of 23 patients, in which 7 presented the disease and the others were asymptomatic members of families with the disease, was analyzed on evaluation of abnormalities of evoked visual responses; An other similar group, in repartition of subj...

Journal: :Journal of medical genetics 2004
P Yu-Wai-Man N Howell D A Mackey S Nørby T Rosenberg D M Turnbull P F Chinnery

L eber hereditary optic neuropathy (LHON; OMIM #535000) is a mitochondrial genetic disease that causes blindness in young adults, with an estimated minimum prevalence of 3.2 per 100 000 in the north east of England. It classically presents as bilateral subacute loss of central vision due to the focal neurodegeneration of the retinal ganglion cell layer. Over 95% of cases are principally due to ...

2009
Matthew Anthony Kirkman Patrick Yu-Wai-Man Alex Korsten Miriam Leonhardt Konstantin Dimitriadis Ireneaus F. De Coo Thomas Klopstock Patrick Francis Chinnery

Leber hereditary optic neuropathy (LHON) is a genetic disorder primarily due to mutations of mitochondrial DNA (mtDNA). Environmental factors are thought to precipitate the visual failure and explain the marked incomplete penetrance of LHON, but previous small studies have failed to confirm this to be the case. LHON has no treatment, so identifying environmental triggers is the key to disease p...

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