Results 21 to 30 of about 9,987 (182)

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2016
AbstractPurposeTo evaluate the optic nerve head (ONH) microcirculation in autosomal dominant optic atrophy (ADOA) patients.MethodsThis study comprised 22 eyes of 12 ADOA patients, diagnosed according to clinical findings including family history and the presence of mutations in the OPA1 gene.
Hiroshi Kunikata, Takayuki Takeshita, Naoko Aizawa   +2 more
exaly   +3 more sources

IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy [PDF]

Frontiers in Ophthalmology
Autosomal dominant optic atrophy (ADOA) is among the most prevalent inherited optic neuropathies with hallmark symptoms of bilateral, painless, progressive, and typically permanent vision loss over time.
Ritu Sampige, Lyra E.A. Seaborn, Molly Pluenneke, Annika Jyothi, Sophie Saland, Chisom M. Chinedu-Obi, Caroline Keehn, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee, Andrew G. Lee   +14 more
doaj   +2 more sources

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   +4 more sources

A Case Report of Unilateral <italic>OPA3</italic>-Related Dominant Optic Atrophy [PDF]

Case Reports in Ophthalmology
Introduction: Autosomal dominant optic atrophy (DOA) is an inherited optic neuropathy characterized by progressive bilateral vision loss, cecocentral visual field (VF) defects, and retinal ganglion cell degeneration.
Matthaeus Antony Ware, Haoran Charles Li, Jonathan Micieli   +2 more
doaj   +2 more sources

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy

Cell Death Discovery
Autosomal dominant optic atrophy (ADOA) caused by mutations in the nuclear-encoded OPA1 gene result in the preferential loss of retinal ganglion cells (RGCs) and progressive optic nerve degeneration. The severity of ADOA can be highly variable.
Shi-Qi Yao, Jia-Jian Liang, Hui Zhou, Shaoying Tan, Yingjie Cao, Chong-Bo Chen, Ciyan Xu, Ruixi Wang, Tai-Ping Li, Fang-Fang Zhao, Yun Wang, Han-Jie He, Dan Zhang, Meng Wang, Lifang Liu, Patrick Yu-Wai-Man, Shihui Wei, Ling-Ping Cen   +17 more
doaj   +3 more sources

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. [PDF]

PLoS ONE, 2011
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is
Nicole J Van Bergen, Jonathan G Crowston, Lisa S Kearns, Sandra E Staffieri, Alex W Hewitt, Amy C Cohn, David A Mackey, Ian A Trounce   +7 more
doaj   +2 more sources

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy

The Journal of Clinical Investigation
Autosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding, Papa S. Ndiaye, Sydney R. Campbell, Michelle Y. Fry, Jincheng Gong, Sophia R. Wienbar, Whitney Gibbs, Philippe Morquette, Luke H. Chao, Michael Tri H. Do, Thomas L. Schwarz   +10 more
doaj   +2 more sources

The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants

American Journal of Ophthalmology Case Reports
Purpose: Leber Hereditary Optic Neuropathy (LHON) and Autosomal Dominant Optic Atrophy (ADOA) are hereditary optic neuropathies characterized by mitochondrial dysfunctions causing destruction to the retinal ganglion cells and their axons, painless ...
Mohammed A. Halawani, Nooran O. Badeeb
doaj   +3 more sources

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

American Journal of Ophthalmology Case Reports, 2023
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2.
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee   +5 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