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Research Article

Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

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Pages 422-426 | Received 27 Jun 2013, Accepted 11 Jul 2013, Published online: 18 Oct 2013

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Read on this site (2)

Chuanbin Sun, Xiaoyu Wu, Hai-Xia Bai, Chenghui Wang, Zhe Liu, Chenxi Yang, Yijun Lu & Pingping Jiang. (2021) OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion. Ophthalmic Genetics 42:1, pages 45-52.
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Huajin Li, Evan M. Jones, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Rui Chen, Fangtian Dong & Ruifang Sui. (2018) Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants. Ophthalmic Genetics 39:5, pages 569-576.
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Articles from other publishers (20)

Aaron W. CaseODOD, Lovelee E. SayomacODOD & Matthew J. AndersonODOD. (2023) Autosomal Dominant Optic Atrophy Plus Syndrome. Optometric Clinical Practice 2:5, pages 41-49.
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Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg & Øystein Kalsnes Jørstad. (2022) A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy. American Journal of Ophthalmology Case Reports 26, pages 101400.
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Zixi Sun, Shijing Wu, Tian Zhu, Xing Wei, Xiaoxu Han, Xuan Zou & Ruifang Sui. (2022) Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation. Stem Cell Research 60, pages 102705.
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Svenja Alter, Navid Farassat, Sebastian Küchlin, Wolf A. Lagrèze & Judith Fischer. (2022) First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant. Genes 13:3, pages 478.
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Piyush Kohli, K. N. Jayasri, A. Rupa, Mahesh Kumar & A. Kowsalya. (2021) Electrophysiological and neuroimaging findings in a patient who developed visual loss after attempted suicide by hanging. Documenta Ophthalmologica 143:3, pages 331-337.
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Sylvie Gerber, Christophe Orssaud, Josseline Kaplan, Catrine Johansson & Jean-Michel Rozet. (2021) MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy. Genes 12:4, pages 521.
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Daniel M. Maloney, Naomi Chadderton, Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, James J. O’Byrne, Lorraine Cassidy, David Keegan, Peter Humphries, Paul Kenna & Gwyneth Jane Farrar. (2020) Optimized OPA1 Isoforms 1 and 7 Provide Therapeutic Benefit in Models of Mitochondrial Dysfunction. Frontiers in Neuroscience 14.
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Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang & Jun Zhao. (2019) A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family . Journal of Ophthalmology 2019, pages 1-10.
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Hong Guo, Shiying Li, Limeng Dai, Xiaoyong Huang, Tao Yu, Zhengqin Yin & Yun Bai. (2019) Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China. Mitochondrion 46, pages 327-333.
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Nihada Corajevic, Michael Larsen & Cecilia Rönnbäck. (2018) Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy. Acta Ophthalmologica 96:3, pages 251-256.
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Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati & André Schaller. (2017) Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing. BMC Medical Genetics 18:1.
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E. Pretegiani, F. Rosini, A. Rufa, G.N. Gallus, E. Cardaioli, P. Da Pozzo, S. Bianchi, V. Serchi, M. Collura, R. Franceschini, S. Bianchi Marzoli, M.T. Dotti & A. Federico. (2017) Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families. Journal of the Neurological Sciences 382, pages 29-35.
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Aneta Ścieżyńska, Ewelina Ruszkowska, Kamil Szulborski, Katarzyna Rydz, Joanna Wierzbowska, Joanna Kosińska, Marek Rękas, Rafał Płoski, Jacek Paweł Szaflik & Monika Ołdak. (2017) Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay. PLOS ONE 12:8, pages e0183866.
Crossref
Bo Young Chun & Joseph F. RizzoIIIIII. (2017) Dominant Optic Atrophy and Leber’s Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches. Seminars in Pediatric Neurology 24:2, pages 129-134.
Crossref
Dekang Gan, Mengwei Li, Jihong Wu, Xinghuai Sun & Guohong Tian. (2017) Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of Ophthalmology 2017, pages 1-5.
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Kate E. Ahmad, Clare L. Fraser, Carolyn M. Sue & Jason J.S. Barton. (2016) Beyond what the eye can see. Survey of Ophthalmology 61:5, pages 674-679.
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Kristy Lee & Natario L. Couser. (2016) Genetic Testing for Eye Diseases: A Comprehensive Guide and Review of Ocular Genetic Manifestations from Anterior Segment Malformation to Retinal Dystrophy. Current Genetic Medicine Reports 4:2, pages 41-48.
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LIOR COHEN, SHAY TZUR, NITZA GOLDENBERG-COHEN, CONCETTA BORMANS, DORON M. BEHAR & EYAL REINSTEIN. (2016) Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy . Genetics Research 98.
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Cord Huchzermeyer, Jan Kremers & John Barbur. 2016. Human Color Vision. Human Color Vision 269 315 .
Karl C. Golnik. (2015) Neuro-Ophthalmology Annual Review. Asia-Pacific Journal of Ophthalmology 4:5, pages 307-315.
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