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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   +19 more sources

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption [PDF]

Molecular Therapy: Nucleic Acids, 2021
Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects.
Christoph Jüschke, Thomas Klopstock, Claudia B. Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt   +5 more
doaj   +10 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   +5 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   +5 more sources

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

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   +4 more sources

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

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   +5 more sources

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

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   +3 more sources

An autosomal dominant optic atrophy: Kjer type [PDF]

Revista Brasileira de Oftalmologia
We present a case of an autosomal dominant optic neuropathy, known as Kjer's disease. The condition can manifest since childhood, presenting with bilateral symmetric optic atrophy and progressive vision loss.
Flavio Mac Cord Medina, Natália Carneiro de Freitas   +1 more
doaj   +4 more sources

Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2022
The purpose of the study was to evaluate vision‐related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA).
Christina Eckmann-Hansen, Toke Bek, Michael Larsen   +2 more
exaly   +3 more sources

Autosomal Dominant Optic Atrophy Plus Syndrome: A Case Report

Delhi Journal of Ophthalmology, 2020
A 9-year-old boy of Indian origin presented with defective vision and nystagmus. The parents also complained of hearing loss. On examination he had bilateral optic atrophy.
V. Rajesh Prabu, H. Ranjini, Rajlaxmi B. Wasnik, Parul Priyambada   +3 more
doaj   +4 more sources