Results 51 to 60 of about 67,593 (295)
A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene
American Journal of Ophthalmology Case Reports, 2022 Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40.
Jinhee Lee +7 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
Differential diagnoses of the pale/white/atrophic disc
Community Eye Health Journal, 2017 Optic atrophy, pallor of the optic nerve head, is a sign found in patients with visual loss due to pathology of the optic nerve or retinal ganglion cells. There are many causes.
Vivian B Osaguona
doaj
Medical management of hereditary optic neuropathies
Frontiers in Neurology, 2014 Hereditary optic neuropathies are diseases of the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e. the maternally inherited Leber’s Hereditary Optic Neuropathy (LHON) and Dominant Optic Atrophy (DOA).
Chiara eLa Morgia +7 more
doaj +1 more source
Optic Atrophy Secondary to Ophthalmic Artery Aneurysm
, 2023 Optic neuropathy caused by an aneurysm is rare, with an incidence of 1.4% among patients with an aneurysm. Aneurysms typically rupture before becoming large enough to compress the sensory visual pathways.
Christopher Sesi; Poonam Bansal
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Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
Wolfram syndrome: A rare mimic of type 1 diabetes mellitus
CHRISMED Journal of Health and Research, 2016 Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM), optic atrophy, and deafness.
Manish Gutch +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Purpose Air pollution has been linked to several neurological conditions, including stroke and neurodegenerative diseases. Evidence regarding its association with multiple sclerosis (MS) remains conflicting, limited by small sample sizes. Methods PubMed, Embase, Scopus, and Cochrane controlled register of trials (CENTRAL) were searched on ...
Ahmad A. Toubasi, Thuraya N. Al‐Sayegh
wiley +1 more source
A clinical study of optic atrophy
, 2022 Methods and materials:50 patients of optic atrophy attended to ophthalmology outpatient department from November 2019 to May 2021 were enquired about history of present illness, ingestion of toxic substances, Tobacco, alcohol, and examined for visual ...
Kola Vijaya Sekhar +3 more
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