Results 31 to 40 of about 9,987 (182)

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

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore [PDF]

Eye, 2016
PurposeAutosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian population in Singapore.Patients and methodsPreliminary cross-sectional study at the Singapore National Eye Centre, including patients with ...
Loo, J, Singhal, S, Rukmini, A, Tow, S, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Gooley, J, Reynier, Pascal, Ferré, Marc, Milea, Dan   +10 more
openaire   +2 more sources

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy [PDF]

BMC Biochemistry, 2008
Abstract Background Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral blindness due to loss of retinal ganglion cells and optic nerve deterioration, arises predominantly from mutations in the nuclear gene for the mitochondrial GTPase, OPA1.
Mayorov, Vladimir I, Lowrey, Angela J, Biousse, Valerie, Newman, Nancy J, Cline, Susan D, Brown, Michael D   +5 more
openaire   +2 more sources

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

Electrophysiological ON and OFF responses in Autosomal Dominant Optic Atrophy [PDF]

Acta Ophthalmologica, 2015
PurposeTo assess the effect of ADOA on the ON and OFF components of the photopic negative response (PhNR).MethodsTwelve participants from 6 families with OPA1 ADOA and 16 age matched controls were recruited. Electrophysiological assessment involved long flash focal (20o) and full field ERGs using red flash (664 nm, 250 msec, 55 cd/m2, 2 Hz) on a rod ...
Morny, Emyan Komla A., Margrain, Tom H., Binns, Alison M., Votruba, Marcela   +3 more
openaire   +2 more sources

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

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

Generation of induced pluripotent stem cells from a patient with hearing loss carrying OPA1 c.1468T>C (p.Cys490Arg) variant

Stem Cell Research, 2022
Pathogenic variants of OPA1 have been associated with autosomal dominant optic atrophy (DOA), leading to optic, auditory, and other sensorineural neuropathies and myopathies.
Yen-Hui Chan, Chang-Han Ho, Cheng-Yu Tsai, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu   +10 more
doaj   +1 more source

Oxidative Stress in Optic Neuropathies

Antioxidants, 2021
Increasing evidence indicates that changes in the redox system may contribute to the pathogenesis of multiple optic neuropathies. Optic neuropathies are characterized by the neurodegeneration of the inner-most retinal neurons, the retinal ganglion cells (
Berta Sanz-Morello, Hamid Ahmadi, Rupali Vohra, Sarkis Saruhanian, Kristine Karla Freude, Steffen Hamann, Miriam Kolko   +6 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy

Stem Cell Research, 2021
Mutations of the OPA1 gene are responsible for over 70% of autosomal dominant optic atrophy patients. Peripheral blood mononuclear cells (PBMCs) were isolated from a 27–year-old patient with heterozygous c.2708_2711delTTAG mutation in the OPA1 gene ...
Xiao-Hui Zhang, Yue Xie, Ke Xu, Yang Li
doaj   +1 more source