Results 21 to 30 of about 9,462 (208)

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

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

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

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +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

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