Results 1 to 10 of about 1,408,479 (244)

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing [PDF]

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   +2 more sources

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population [PDF]

Current Issues in Molecular Biology, 2023
A clinical and genetic study was conducted with pediatric patients and their relatives with optic atrophy 1 (OPA1) mutations to establish whether there is a genotype–phenotype correlation among the variants detected within and between families.
Natalia Arruti, Patricia Rodríguez-Solana, María Nieves-Moreno, Marta Guerrero-Carretero, Ángela del Pozo, Victoria E. F. Montaño, Fernando Santos-Simarro, Emi Rikeros-Orozco, Luna Delgado-Mora, Elena Vallespín, Susana Noval   +10 more
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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

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy [PDF]

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +2 more sources

Establishing induced pluripotent stem cell lines from two dominant optic atrophy patients with distinct OPA1 mutations and clinical pathologies [PDF]

Frontiers in Genetics, 2023
Dominant optic atrophy (DOA) is an inherited disease that leads to the loss of retinal ganglion cells (RGCs), the projection neurons that relay visual information from the retina to the brain through the optic nerve.
Katherine A. Pohl, Katherine A. Pohl, Xiangmei Zhang, Anh H. Pham, Jane W. Chan, Alfredo A. Sadun, Xian-Jie Yang, Xian-Jie Yang   +7 more
doaj   +2 more sources

Case of autosomal dominant optic atrophy with relatively good visual function [PDF]

BMC Ophthalmology
Background Dominant optic atrophy (DOA) is an inherited optic neuropathy caused by mutations of the OPA1 gene. Patients with DOA have a gradual loss of vision that is often detected in early life.
Midori Tachibana, Takaaki Hayashi, Yuro Igawa, Kei Mizobuchi, Yosuke Miyasaka, Takashi Tsuchihashi, Kei Shinoda   +6 more
doaj   +2 more sources

Genotype–Phenotype Correlation in Dominant Optic Atrophy due to OPA1 c.3011T>C (p.Leu1004Pro): A Family-Based Case Series [PDF]

Journal of Current Ophthalmology
Purpose: To characterize the structural, functional, and optical coherence tomography angigraphy (OCTA) phenotype associated with the OPA1 c3011T>C (p.Leu1004Pro) variant in a multigenerational family with autosomal dominant optic atrophy.
Hasan Can Küçük, Nilüfer Koçak, Denizcan Özizmirliler, Suzan Doğruya, Ali Devebacak   +4 more
doaj   +2 more sources

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy [PDF]

eLife
Autosomal dominant optic atrophy (DOA) is a progressive form of blindness caused by degeneration of retinal ganglion cells and their axons, mainly caused by mutations in the OPA1 mitochondrial dynamin like GTPase (OPA1) gene.
Yohei Nitta, Jiro Osaka, Ryuto Maki, Satoko Hakeda-Suzuki, Emiko Suzuki, Satoshi Ueki, Takashi Suzuki, Atsushi Sugie   +7 more
doaj   +2 more sources

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy [PDF]

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   +2 more sources

Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis [PDF]

Frontiers in Neurology, 2021
In the year 2000, the discovery of OPA1 mutations as causative for dominant optic atrophy (DOA) was pivotal to rapidly expand the field of mitochondrial dynamics and describe the complex machinery governing this pathway, with a multitude of other genes ...
Valentina Del Dotto, Valerio Carelli, Valerio Carelli   +2 more
doaj   +2 more sources