Results 1 to 10 of about 61,302 (137)
Orphanet Journal of Rare Diseases, 2012 Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life.
Lenaers Guy +7 more
doaj +5 more sources
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy [PDF]
JCI InsightThe degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown.
Chenghui Wang +11 more
doaj +2 more sources
Trans-synaptic degeneration of the optic radiation from optic nerve atrophy
Radiology Case Reports, 2021 Fourty-seven-year-old woman with 5-year history of progressive decreased left eye vision. Optical coherence tomography showed optic nerve atrophy (left > right) and brain MRI revealed T2 hyperintense signal along the course of left optic radiations.
Shingo Kihira, MD +4 more
doaj +1 more source
Asian Journal of Medical Sciences, 2023 Background: Optic atrophy is a clinical presentation in which the optic disc appears pale due to irreversible damage of retinal ganglion cells and axons in the anterior visual pathway.
Kabindra Bajracharya +4 more
doaj +1 more source
Macular choroidal thickness and peripapillary retinal nerve fiber layer thickness in normal adults and patients with optic atrophy due to acute idiopathic demyelinating optic neuritis. [PDF]
PLoS ONE, 2018 PURPOSE:To evaluate the association between macular choroidal thickness and peripapillary RNFL thickness in patients with optic atrophy due to acute idiopathic demyelinating optic neuritis and in normal controls using spectral domain optical coherence ...
Kyung-Ah Park +2 more
doaj +1 more source
Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing
American Journal of Ophthalmology Case Reports, 2023 Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2.
Michael C. Brodsky +5 more
doaj +1 more source
BMJ Open Ophthalmology, 2023 Background The aim of this study was to assess the risk factors for atrophic progression of patients with papilloedema secondary to intracranial hypertension, using optical coherence tomography parameters.Methods A retrospective study was conducted at ...
Bertrand Audoin +8 more
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Frontiers in Neurology, 2022 AimsTo evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS).MethodsA cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two
Yuri Seo +12 more
doaj +1 more source
Brain Sciences, 2023 Wolfram syndrome is a neurodegenerative disorder caused by pathogenic variants in the genes WFS1 or CISD2. Clinically, the classic phenotype is composed of optic atrophy, diabetes mellitus type 1, diabetes insipidus, and deafness.
Ruben Jauregui +9 more
doaj +1 more source