نتایج جستجو برای: optic atrophy
تعداد نتایج: 78319 فیلتر نتایج به سال:
This research was aimed to study the etiology of optic atrophy and comparison of optic disc morphology between compressive and glaucomatous optic atrophy. It included 72 cases of optic atrophy admitted in Maharani Laxmi Bai Medical College, Jhansi between January 2016 to May 2017. Assessment of present complaints, examination of the eyes, visual acuity, refraction, perimetry, Optical Coherence ...
H ereditary optic atrophy is a generic term that refers to a heterogeneous group of genetic disorders for which several modes of inheritance have been described. The most common forms of optic atrophy are autosomal dominant optic atrophy (ADOA, OMIM 165500) and Leber’s hereditary optic neuropathy (LHON, OMIM 53500). ADOA, which generally starts in childhood, is characterised by a progressive de...
H ereditary optic atrophy is a generic term that refers to a heterogeneous group of genetic disorders for which several modes of inheritance have been described. The most common forms of optic atrophy are autosomal dominant optic atrophy (ADOA, OMIM 165500) and Leber’s hereditary optic neuropathy (LHON, OMIM 53500). ADOA, which generally starts in childhood, is characterised by a progressive de...
Wolfram syndrome is the constellation of juvenile onset diabetes mellitus and optic atrophy, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness).Patients demonstrate diabetes mellitus followed by optic atrophy in the first decade, diabetes insipidus and sensorineural deafness in the second decade, dilated renal outflow tracts early in the third decade, and mult...
Aconitase 2 (ACO2) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia; subsequently, ACO2 mutations have also been associated ...
A 25-year-old woman presented with a 3-year history of progressive visual loss. She had type 1 diabetes mellitus (DM1) since 18-year-old. Fundoscopy showed atrophic optic discs (Figure 1). MRI disclosed bilateral optic nerve atrophy (Figure 2). Optic coherence temography demonstrated disease progression (Figure 3). Exome sequencing disclosed two deleterious mutations in WFS gene [the novel vari...
There are a number of hereditary conditions in which optic atrophy may be a feature. These include skeletal conditions such as cranio-stenosis, some of the phakomatoses, congenital glaucoma and so on. In these conditions the optic atrophy is the result of a fairly obvious mechanism such as optic nerve compression, the effects of intraocular pressure on circulation in the nerve head or optic atr...
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