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Case report

First published 2021

Peripapillary capillary network in dominant optic atrophy linked to OPA1 gene

Miriam Rahhal-Ortuño, Juan Aurelio Aviñó-Martínez, Alex Samir Fernández-Santodomingo [...]

European Journal of Ophthalmology

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Case report

First published 2023-12

Dominant Optic Atrophy With Varied Phenotype in a Family of Eastern India: A Case Report of a Rare Mutation

Camelia Porey, Binaya Kumar Jaiswal

Indian Journal of Clinical Medicine

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Announcement

First published 2007-3

Dominant Optic Atrophy in a Japanese Family with Opa1 Frameshift Mutation (V942fsX966)

T. Hayashi, T. Takeuchi, T. Gekka [...]

European Journal of Ophthalmology

Open access

Research article

First published 2024-10

Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells

Aditya Venkatesh, Taylor Mckenty, Syed Ali [...]

Nucleic Acid Therapeutics

Open access

Research article

First published 2012-2

Genetic variations within the OPA1 gene are not associated with neuromyelitis optica

Kamil S Sitarz, Patrick Yu-Wai-Man, Gavin Hudson [...]

Multiple Sclerosis Journal

Free access

Meeting report

First published 1935-8

A Pedigree of Congenital Optic Atrophy Embracing Sixteen Affected Cases in Six Generations

A. Hugh Thompson, G. T. Willoughby Cashell

Journal of the Royal Society of Medicine

Open access

Review article

First published 2021

New avenues for therapy in mitochondrial optic neuropathies

Wing Sum Vincent Ng, Matthieu Trigano, Thomas Freeman [...]

Therapeutic Advances in Rare Disease

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Case report

First published 2024-7

A Wolfram-like syndrome family: Case report

Siying Li, Xiaoxin Li, Jinfeng Qu

European Journal of Ophthalmology

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Other

First published 1995-11

Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VI

Elly F. Ippel, Dienke Wittebol-Post, Frans G.I. Jennekens [...]

Journal of Child Neurology

Open access

Review article

First published 2020

OCTA in neurodegenerative optic neuropathies: emerging biomarkers at the eye–brain interface

Samuel Asanad, Isa Mohammed, Alfredo A. Sadun [...]

Therapeutic Advances in Ophthalmology

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