Dominant Optic Atrophy
What's New
Last Posted: Aug 31, 2023
- Diagnostic Yield of Investigations in Symmetric Optic Neuropathy.
Armin Handzic, et al. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2023 0 - Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
Pretegiani E, et al. Journal of the neurological sciences 2017 0 29-35 - Retinal dysfunction characterizes subtypes of dominant optic atrophy.
Cascavilla Maria Lucia, et al. Acta ophthalmologica 2017 0 (2) e156-e163 - Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
Ham Michelle, et al. Mitochondrion 2018 0 262-269 - Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif Majida, et al. Brain communications 2021 0 (2) fcab063 - Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.
Xu Xingyu, et al. Molecular genetics and genomics : MGG 2021 0 (4) 845-862 - Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han Jinfeng, et al. BMC ophthalmology 2022 0 (1) 322 - Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.
Jüschke Christoph, et al. Molecular therapy. Nucleic acids 2021 0 1186-1197 - Genetic and Clinical Analyses of DOA and LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy.
Li Yadi, et al. PloS one 2017 0 (1) e0170090 - Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.
Mozo-Cuadrado M, et al. Journal francais d'ophtalmologie 2020 0 (3) e107-e108
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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