Results 51 to 60 of about 374,308 (293)

Dominant Optic Atrophy

, 2021
Dr.
Andrew G. Lee, MD; Rujman Khan
core  

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

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, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source

Prodromal Lewy Body Disorder Features in REM Sleep Behavior Disorder With Biomarker‐Defined Synucleinopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub, Michele K. York, Roseanne Dobkin, Anuprita R. Nair, Ryan Kurth, David‐Erick Lafontant, Chelsea Caspell‐Garcia, Roy N. Alcalay, Ethan G. Brown, Lana M. Chahine, Christopher Coffey, Tatiana Foroud, Douglas Galasko, Karl Kieburtz, Kenneth Marek, Kalpana Merchant, Brit Mollenhauer, Kathleen L. Poston, Andrew Siderowf, Cristina Simonet, Tanya Simuni, Caroline M. Tanner, Thomas F. Tropea, Aleksandar Videnovic, The Parkinson's Progression Markers Initiative   +24 more
wiley   +1 more source

Diabetes mellitus, diabetes insipidus, optic atrophy, and deafness: A case of Wolfram (DIDMOAD) syndrome

Journal of Current Ophthalmology, 2015
Purpose: To report a case of Wolfram syndrome (WS) characterized by diabetes mellitus, diabetes insipidus, progressive optic atrophy, and deafness. Case report: A 19-year-old female patient, a known case of diabetes mellitus type I from six years before,
Nasrollah Maleki, Bahman Bashardoust, Anahita Zakeri, Azita Salehifar, Zahra Tavosi   +4 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
core  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 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  

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, Krishna Kumar Sahani, Annesh Bhattacharjee, Sukriti Kumar, Shobhit Shakya   +4 more
doaj   +1 more source

Optic Atrophy and Disc Morphology

, 2022
Dr.
Andrew G. Lee, MD
core