Results 21 to 30 of about 1,408,479 (244)

Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction

Frontiers in Neuroscience, 2020
Optic Atrophy 1 (OPA1) is a mitochondrially targeted GTPase that plays a pivotal role in mitochondrial health, with mutations causing severe mitochondrial dysfunction and typically associated with Dominant Optic Atrophy (DOA), a progressive blinding ...
Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna, Paul Kenna, Gwyneth Jane Farrar   +12 more
doaj   +1 more source

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Indian Journal of Ophthalmology, 2022
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy.
Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy   +2 more
doaj   +1 more source

Case report: Corneal endothelial degeneration and optic atrophy in dentatorubral-pallidoluysian atrophy quantified by specular micrography and optical coherence tomography

Frontiers in Neurology, 2022
IntroductionDentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease with various neurological manifestations. Corneal endothelial degeneration and optic atrophy have been reported separately; however, there are no ...
Shunya Takizawa, Hiroto Mitamura, Hiroto Mitamura, Yuko Ohnuki, Kenji Kawai, Yoichi Ohnuki, Eiichiro Nagata, Wakoh Takahashi   +7 more
doaj   +1 more source

Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report

Delhi Journal of Ophthalmology, 2020
A 9-year-old boy of Indian origin presented with defective vision and nystagmus. The parents also complained of hearing loss. On examination he had bilateral optic atrophy.
V. Rajesh Prabu, H. Ranjini, Rajlaxmi B. Wasnik, Parul Priyambada   +3 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

The Influence of Mitochondrial Dynamics and Function on Retinal Ganglion Cell Susceptibility in Optic Nerve Disease

Cells, 2021
The important roles of mitochondrial function and dysfunction in the process of neurodegeneration are widely acknowledged. Retinal ganglion cells (RGCs) appear to be a highly vulnerable neuronal cell type in the central nervous system with respect to ...
Nicole A. Muench, Sonia Patel, Margaret E. Maes, Ryan J. Donahue, Akihiro Ikeda, Robert W. Nickells   +5 more
doaj   +1 more source

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +1 more source

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

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

EMBO Molecular Medicine, 2023
Graphical Abstract Gerber et al report 2 autosomal recessive pathogenic Misato homolog 1 (MSTO1) variants causing hereditary optic atrophy and raise concerns about a previously identified dominant variant of MSTO1 by Gal et al (2017).
Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet   +11 more
doaj   +1 more source

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

EMBO Molecular Medicine, 2019
Optic nerve atrophy represents the most common form of hereditary optic neuropathies leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy (BBSOA) syndrome denotes an autosomal dominant genetic form of neuropathy caused
Michele Bertacchi, Agnès Gruart, Polynikis Kaimakis, Cécile Allet, Linda Serra, Paolo Giacobini, José M Delgado‐García, Paola Bovolenta, Michèle Studer   +8 more
doaj   +1 more source