Results 11 to 20 of about 1,057,814 (256)

A Case of Childhood-Onset Giant Cell Tumor that Caused Optic Nerve Atrophy in Both Eyes

Case Reports in Ophthalmology, 2017
Purpose: The purpose of this study was to report the case of a female patient who had a giant cell tumor in the paranasal sinus during childhood, and while undergoing multiple resection surgeries experienced optic atrophy in both eyes. Case Presentation:
Masahiro Tonari, Junko Matsuo, Hidehiro Oku, Jun Sugasawa, Tsunehiko Ikeda, Kazunori Tatsuzawa, Tomoaki Fujita   +6 more
doaj   +2 more sources

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy

Acta Neuropathologica Communications, 2020
Autosomal dominant optic atrophy (ADOA) is a neuro-ophthalmic condition characterized by bilateral degeneration of the optic nerves. Although heterozygous mutations in OPA1 represent the most common genetic cause of ADOA, a significant number of cases ...
Valentina Baderna, Joshua Schultz, Lisa S. Kearns, Michael Fahey, Bryony A. Thompson, Jonathan B. Ruddle, Aamira Huq, Francesca Maltecca   +7 more
doaj   +1 more source

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]

, 2010
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane, Schimpf Simone, Bernd Wissinger, Zrenner, Eberhart, Alavi, M.V., Schimpf, Simone, Auburger Georg, Zrenner, E., Zrenner Eberhart, Schimpf, S., Alavi-Khorassani Moghadam, Marcel Victor, Auburger, Georg, Leo-Kottler, Beate, Marcel V Alavi, Wissinger, Bernd, Christiane Alexander, Nico Fuhrmann, Wissinger, B., Fuhrmann Nico, Beate Leo-Kottler, Alexander, Christiane, Kamenisch, York, Fuhrmann, Nico, Kamenisch, Y., Wissinger Bernd, Auburger, G., Simone Schimpf, Eberhart Zrenner, Georg Auburger, Kamenisch York, York Kamenisch, Alexander, C., Leo-Kottler, B., Leo-Kottler Beate, Alavi Marcel V, Fuhrmann, N.   +35 more
core   +1 more source

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

Molecular Genetics & Genomic Medicine, 2023
Background Biallelic pathogenic variants in the neuroblastoma‐amplified sequence (NBAS) gene manifest in a broad spectrum of disorders, including, but not limited to recurrent acute liver failure, skeletal dysmorphism, susceptibility to infections, and ...
Claudia S. Priglinger, Günter Rudolph, Irene Schmid, Pascale Mazzola, Tobias B. Haack, Milda Reith, Katarina Stingl, Nicole Weisschuh   +7 more
doaj   +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

Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. [PDF]

PLoS ONE, 2017
Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA), the most common forms of hereditary optic neuropathy, are easily confused, and it is difficult to distinguish one from the other in the clinic, especially in young children.
Yadi Li, Jie Li, Xiaoyun Jia, Xueshan Xiao, Shiqiang Li, Xiangming Guo   +5 more
doaj   +1 more source

Incidental branch retinal artery occlusion on optical coherence tomography angiography presenting as segmental optic atrophy in a child: a case report

BMC Ophthalmology, 2017
Background Retinal artery occlusion is extremely rare in the pediatric population and most patients have risk factors. We report a case of a healthy child with segmental optic atrophy, complicated by incidental branch retinal artery occlusion (BRAO ...
Ji Hyung Choi, Hee Kyung Yang, Ji Eun Lee   +2 more
doaj   +1 more source

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

Journal of Medical Case Reports, 2023
Background Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations.
Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani   +6 more
doaj   +1 more source

Genetically altered animal models for ATP1A3-related disorders

Disease Models & Mechanisms, 2021
Within the past 20 years, particularly with the advent of exome sequencing technologies, autosomal dominant and de novo mutations in the gene encoding the neurone-specific α3 subunit of the Na+,K+-ATPase (NKA α3) pump, ATP1A3, have been identified as the
Hannah W. Y. Ng, Jennifer A. Ogbeta, Steven J. Clapcote   +2 more
doaj   +1 more source

Gray matter atrophy rate as a marker of disease progression in AD [PDF]

, 2010
Global gray matter (GM) atrophy rates were quantified from magnetic resonance imaging (MRI) over 6- and 12-month intervals in 37 patients with Alzheimer's disease (AD) and 19 controls using: (1) nonlinear registration and integration of Jacobian values ...
Miller, David H., Nick C. Fox, Kelvin K. Leung, David H. Miller, Anderson, V.M., Anderson, Valerie M, Jonathan W. Bartlett, Leung, Kelvin K, Bartlett, J.W., Bartlett, Jonathan W., Leung, Kelvin K., Fox, Nick C, Schott, Jonathan M, Leung, K.K., Fox, Nick C., Schott, Jonathan M., Valerie M. Anderson, Fox, N.C., Anderson, Valerie M., Schott, J.M., Bartlett, Jonathan W, Jonathan M. Schott, Miller, David H, Miller, D. H., Schott, JM, Fox, NC, Leung, KK, Miller, DH, Anderson, Valerie, Bartlett, JW   +29 more
core   +1 more source