Results 31 to 40 of about 9,462 (208)

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

Autosomal Dominant Optic Atrophy Plus Syndrome

Optometric Clinical Practice, 2023
Background: Dominant optic atrophy (DOA) is the most commonly encountered hereditary optic neuropathy in clinical practice and is the result of a mutation in the OPA1 or OPA3 genes encoding mitochondrial membrane proteins. The resultant mitochondrial dysfunction causes a distinct set of ophthalmic findings and may progress to extra-ocular systems known
Aaron W. Case, Lovelee E. Sayomac, Matthew J. Anderson   +2 more
openaire   +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

Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy

Nature Communications, 2020
Autosomal dominant optic atrophy is caused by mutations in the mitochondrial fusion protein OPA1. Here, the authors show that AMPK-induced autophagy depletes mitochondria in axons of retinal ganglion cells and that autophagic inhibition reverses vision ...
Marta Zaninello, Konstantinos Palikaras, Deborah Naon, Keiko Iwata, Stephanie Herkenne, Ruben Quintana-Cabrera, Martina Semenzato, Francesca Grespi, Fred N. Ross-Cisneros, Valerio Carelli, Alfredo A. Sadun, Nektarios Tavernarakis, Luca Scorrano   +12 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

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

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

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy [PDF]

British Journal of Ophthalmology, 2003
Patients with autosomal dominant optic atrophy (ADOA) are genetically heterogeneous, but all have disc pallor. A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus.29 patients (58 eyes), from 12 ...
Votruba, Marcela, Thiselton, D., Bhattacharya, S. S.   +2 more
openaire   +3 more sources