携带OPA1基因c.1936-2A>G基因变异的杂合型1型常染色体显性遗传性视神经萎缩（ADOA） - Suppr

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Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

作者信息

Mozo-Cuadrado M, Tabuenca-Del Barrio L, Belzunce-Manterola A, Rodríguez-Ulecia I, Morales Garófalo L M

机构信息

Complejo Hospitalario de Navarra, Ophthalmology, Calle Irunlarrea s/n, 31008 Pamplona (Navarra), Spain.

出版信息

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

DOI:10.1016/j.jfo.2019.08.008

PMID:31973973

Abstract

摘要

相似文献

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

Acta Ophthalmol. 2015 Dec;93(8):762-6. doi: 10.1111/aos.12835. Epub 2015 Sep 19.

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

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A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Graefes Arch Clin Exp Ophthalmol. 2007 Oct;245(10):1581-3. doi: 10.1007/s00417-007-0598-1. Epub 2007 Jun 20.

Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):422-6. doi: 10.3109/08820538.2013.825296.

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.

Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17.

Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):69-74. doi: 10.3109/13816810.2012.702259. Epub 2012 Jul 11.

Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4079-86. doi: 10.1167/iovs.07-0024.

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

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相似文献

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.

Acta Ophthalmol. 2015 Dec;93(8):762-6. doi: 10.1111/aos.12835. Epub 2015 Sep 19.

A novel heterozygous splice site OPA1 mutation causes exon 10 skipping in Japanese patients with dominant optic atrophy.

Ophthalmic Genet. 2016 Sep;37(3):354-6. doi: 10.3109/13816810.2015.1066829. Epub 2016 Feb 8.

A novel mutation of the OPA1 gene in a Japanese patient with autosomal dominant optic atrophy.

Graefes Arch Clin Exp Ophthalmol. 2007 Oct;245(10):1581-3. doi: 10.1007/s00417-007-0598-1. Epub 2007 Jun 20.

Autosomal dominant hereditary optic neuropathy (ADOA): a review of the genetics and clinical manifestations of ADOA and ADOA+.

Semin Ophthalmol. 2013 Sep-Nov;28(5-6):422-6. doi: 10.3109/08820538.2013.825296.

Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.

Ophthalmic Genet. 2020 Dec;41(6):563-569. doi: 10.1080/13816810.2020.1814344. Epub 2020 Sep 17.

Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.

Ophthalmic Genet. 2013 Mar-Jun;34(1-2):69-74. doi: 10.3109/13816810.2012.702259. Epub 2012 Jul 11.

Reduction of inner retinal thickness in patients with autosomal dominant optic atrophy associated with OPA1 mutations.

Invest Ophthalmol Vis Sci. 2007 Sep;48(9):4079-86. doi: 10.1167/iovs.07-0024.

Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.

Jpn J Ophthalmol. 2017 Sep;61(5):395-401. doi: 10.1007/s10384-017-0522-0. Epub 2017 Jul 1.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.

Mol Med Rep. 2016 Jul;14(1):33-40. doi: 10.3892/mmr.2016.5209. Epub 2016 May 4.

Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.

作者信息

Mozo-Cuadrado M, Tabuenca-Del Barrio L, Belzunce-Manterola A, Rodríguez-Ulecia I, Morales Garófalo L M

机构信息

Complejo Hospitalario de Navarra, Ophthalmology, Calle Irunlarrea s/n, 31008 Pamplona (Navarra), Spain.

出版信息

J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.

DOI:10.1016/j.jfo.2019.08.008

PMID:31973973

Abstract

摘要