Orphanet Journal of Rare Diseases, 2012 Definition of the disease Dominant Optic Atrophy (DOA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing insidious visual loss, typically starting during the first decade of life.
Lenaers Guy +7 more
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Generation of iPSC-Derived RGCs for Modeling Dominant Optic Atrophy
Medical Sciences Forum, 2023 Dominant optic atrophy (DOA), mainly caused by pathogenic variants in OPA1, is one of the most common forms of hereditary optic neuropathy. OPA1 is involved in mitochondrial dynamics and oxidative phosphorylation, among other functions.
Marta García-López, M. Esther Gallardo
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Volumetric brain analysis and associated retinal thinning in autosomal dominant optic atrophy patients [PDF]
NeuroImage: ReportsIntroduction: Dominant optic atrophy (DOA) is an inherited mitochondrial disorder characterized by retinal thinning and progressive visual loss.
Punpath Pajareeyapong +7 more
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IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy [PDF]
Frontiers in OphthalmologyAutosomal 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 +14 more
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SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy [PDF]
The Journal of Clinical InvestigationAutosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding +10 more
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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 +12 more
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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 ReportsPurpose: 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
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A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family [PDF]
Journal of Ophthalmology, 2019 Background. To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. Methods. A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen ...
Shaoyi Mei +7 more
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Idebenone Treatment in Patients with OPA1-Dominant Optic Atrophy: A Prospective Phase 2 Trial [PDF]
Neuro-Ophthalmology, 2023 Christoph Singer +2 more
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Stem Cell Research, 2022 Dominant optic atrophy (DOA) is one of the most common type of hereditary optic atrophy. Here, we describe the generation and characterization of a human induced pluripotent stem cell (hiPSC) line of DOA patient with an OPA1 mutation.
Zixi Sun +6 more
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