Research & Literature

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.

Ahmad KE, Davis RL, Sue CM

Journal of neurology 2015; (262(10)):2323-8 doi:10.1007/s00415-015-7849-6.

Influence of Opa1 Mutation on Survival and Function of Retinal Ganglion Cells.

González-Menéndez I, Reinhard K, Tolivia J, et al.

Investigative ophthalmology & visual science 2015; (56(8)):4835-45 doi:10.1167/iovs.15-16743.

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.

Jin X, Chen YH, Liu Z, et al.

Genetics and molecular research : GMR 2015; (14(3)):10961-72 doi:10.4238/2015.September.21.8.

The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.

Zhang AM, Bi R, Hu QX, et al.

Molecular neurobiology 2017; (54(3)):1622-1630 doi:10.1007/s12035-016-9771-z.

Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.

Namba K, Mutai H, Takiguchi Y, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2016; (37(4)):394-402 doi:10.1097/MAO.0000000000000978.

Idebenone: A Review in Leber's Hereditary Optic Neuropathy.

Lyseng-Williamson KA

Drugs 2016; (76(7)):805-13 doi:10.1007/s40265-016-0574-3.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Sarzi E, Seveno M, Angebault C, et al.

Human molecular genetics 2016; (25(12)):2539-2551 doi:10.1093/hmg/ddw117.

Exome sequencing identified a novel de novo OPA1 mutation in a consanguineous family presenting with optic atrophy.

Cohen L, Tzur S, Goldenberg-Cohen N, et al.

Genetics research 2016; (98()):e10 doi:10.1017/S0016672316000070.

Emerging Mitochondrial Therapeutic Targets in Optic Neuropathies.

Lopez Sanchez MI, Crowston JG, Mackey DA, Trounce IA

Pharmacology & therapeutics 2016; (165()):132-52.

Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation.

Chun BY, Rizzo JF

Current opinion in ophthalmology 2016; (27(6)):475-480 doi:10.1097/ICU.0000000000000314.

[Differential diagnosis of juvenile normal pressure glaucoma].

Geidel K, Wiedemann P, Unterlauft JD

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2017; (114(9)):828-831 doi:10.1007/s00347-016-0407-5.

Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Bolognini R, Gerth-Kahlert C, Abegg M, et al.

BMC medical genetics 2017; (18(1)):22 doi:10.1186/s12881-017-0383-x.

Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry.

Cesareo M, Ciuffoletti E, Martucci A, et al.

PloS one 2017; (12(3)):e0174560 doi:10.1371/journal.pone.0174560.

Pupillometric evaluation of the melanopsin containing retinal ganglion cells in mitochondrial and non-mitochondrial optic neuropathies.

Ba-Ali S, Lund-Andersen H

Mitochondrion 2017; (36()):124-129 doi:10.1016/j.mito.2017.07.003.

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.

Finsterer J, Mancuso M, Pareyson D, et al.

Mitochondrion 2018; (42()):1-10 doi:10.1016/j.mito.2017.10.003.

Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy.

Corajevic N, Larsen M, Rönnbäck C

Acta ophthalmologica 2018; (96(3)):251-256 doi:10.1111/aos.13588.

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model.

Sarzi E, Seveno M, Piro-Mégy C, et al.

Scientific reports 2018; (8(1)):2468 doi:10.1038/s41598-018-20838-8.

[Hereditary Optic Neuropathies].

Rüther K

Klinische Monatsblatter fur Augenheilkunde 2018; (235(6)):747-763 doi:10.1055/a-0583-6290.

Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.

Ham M, Han J, Osann K, et al.

Mitochondrion 2019; (46()):262-269 doi:10.1016/j.mito.2018.07.006.

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.

Pasutto F, Ekici A, Reis A, et al.

Ophthalmic genetics 2018; (39(6)):741-748 doi:10.1080/13816810.2018.1520263.

[Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies].

Wissinger B

Klinische Monatsblatter fur Augenheilkunde 2018; (235(11)):1235-1241 doi:10.1055/a-0759-2094.

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

Finsterer J, Laccone F

Metabolic brain disease 2019; (34(4)):1023-1027 doi:10.1007/s11011-019-00425-0.

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Le Roux B, Lenaers G, Zanlonghi X, et al.

Orphanet journal of rare diseases 2019; (14(1)):214 doi:10.1186/s13023-019-1187-1.

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Maeda-Katahira A, Nakamura N, Hayashi T, et al.

Molecular vision 2019; (25()):559-573.

A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family.

Mei S, Huang X, Cheng L, et al.

Journal of ophthalmology 2019; (2019()):1424928 doi:10.1155/2019/1424928.

Mitochondrial Gymnastics in Retinal Cells: A Resilience Mechanism Against Oxidative Stress and Neurodegeneration.

Mirra S, Marfany G

Advances in experimental medicine and biology 2019; (1185()):513-517 doi:10.1007/978-3-030-27378-1_84.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

Caporali L, Magri S, Legati A, et al.

Annals of neurology 2020; (88(1)):18-32 doi:10.1002/ana.25723.

Idebenone increases chance of stabilization/recovery of visual acuity in OPA1-dominant optic atrophy.

Romagnoli M, La Morgia C, Carbonelli M, et al.

Annals of clinical and translational neurology 2020; (7(4)):590-594 doi:10.1002/acn3.51026.

Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy.

Kim GN, Kim JA, Kim MJ, et al.

Investigative ophthalmology & visual science 2020; (61(5)):9 doi:10.1167/iovs.61.5.9.

Treatment of Leber's hereditary optic neuropathy: An overview of recent developments.

Zuccarelli M, Vella-Szijj J, Serracino-Inglott A, Borg JJ

European journal of ophthalmology 2020; (30(6)):1220-1227 doi:10.1177/1120672120936592.

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Baderna V, Schultz J, Kearns LS, et al.

Acta neuropathologica communications 2020; (8(1)):93 doi:10.1186/s40478-020-00975-w.

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.

Li JK, Li W, Gao FJ, et al.

Translational vision science & technology 2020; (9(8)):11 doi:10.1167/tvst.9.8.11.

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.

Ahuja AS, Selvam P, Vadlamudi C, et al.

Ophthalmic genetics 2020; (41(6)):563-569 doi:10.1080/13816810.2020.1814344.

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants.

Weisschuh N, Schimpf-Linzenbold S, Mazzola P, et al.

PloS one 2021; (16(7)):e0253987 doi:10.1371/journal.pone.0253987.

Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.

Lin CW, Huang CW, Luo AC, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091378.

Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development.

Harvey JP, Sladen PE, Yu-Wai-Man P, Cheetham ME

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2022; (42(1)):35-44 doi:10.1097/WNO.0000000000001375.

Mitochondrial Mutations in Ethambutol-Induced Optic Neuropathy.

Zhang XH, Xie Y, Xu QG, et al.

Frontiers in cell and developmental biology 2021; (9()):754676 doi:10.3389/fcell.2021.754676.

Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy.

Eckmann-Hansen C, Bek T, Sander B, Larsen M

Acta ophthalmologica 2022; (100(7)):797-804 doi:10.1111/aos.15102.

Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults.

Zhang Y, Sun X, Tian G, Chen Y

Eye (London, England) 2023; (37(4)):624-630 doi:10.1038/s41433-022-01990-y.

Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction.

Harvey JP, Yu-Wai-Man P, Cheetham ME

European journal of human genetics : EJHG 2022; (30(7)):848-855 doi:10.1038/s41431-022-01102-0.

Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.

Han J, Li Y, You Y, et al.

BMC ophthalmology 2022; (22(1)):322 doi:10.1186/s12886-022-02546-0.

Mitochondrial optic neuropathies.

Carelli V, La Morgia C, Yu-Wai-Man P

Handbook of clinical neurology 2023; (194()):23-42 doi:10.1016/B978-0-12-821751-1.00010-5.

New avenues for therapy in mitochondrial optic neuropathies.

Ng WSV, Trigano M, Freeman T, et al.

Therapeutic advances in rare disease 2021; (2()):26330040211029037 doi:10.1177/26330040211029037.

Visual Function and Inner Retinal Structure in Relation to Birth Factors in Autosomal Dominant Optic Atrophy.

Eckmann-Hansen C, Bek T, Sander B, Larsen M

Investigative ophthalmology & visual science 2023; (64(10)):32 doi:10.1167/iovs.64.10.32.

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.

Aleo SJ, Del Dotto V, Romagnoli M, et al.

Cell reports. Medicine 2024; (5(2)):101383 doi:10.1016/j.xcrm.2023.101383.

[Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)].

,

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2024; (60(3)):226-233 doi:10.3760/cma.j.cn112142-20231225-00308.

Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy.

Lombardo M, Cusumano A, Mancino R, et al.

Journal of clinical medicine 2024; (13(7)) doi:10.3390/jcm13071971.

Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in the OPA1 Gene.

García-López M, Jiménez-Vicente L, González-Jabardo R, et al.

International journal of molecular sciences 2024; (25(13)) doi:10.3390/ijms25137240.

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy.

Nitta Y, Osaka J, Maki R, et al.

eLife 2024; (12()).

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

Venkatesh A, McKenty T, Ali S, et al.

Nucleic acid therapeutics 2024; (34(5)):221-233 doi:10.1089/nat.2024.0022.

OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.

Macuada J, Molina-Riquelme I, Vidal G, et al.

Cell death & disease 2024; (15(11)):870 doi:10.1038/s41419-024-07165-9.

Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography.

Camós-Carreras A, Figueras-Roca M, Albà-Arbalat S, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2024; (45(3)):273-277 doi:10.1097/WNO.0000000000002294.

Correlation between quality of vision and clinical and structural parameters in patients with Autosomal Dominant Optic Atrophy.

Camós-Carreras A, Figueras-Roca M, Albà-Arbalat S, et al.

Eye (London, England) 2025; (39(9)):1837-1842 doi:10.1038/s41433-025-03762-w.

OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation.

Zhang K, Zhang W, Zhang L, et al.

Journal of translational medicine 2025; (23(1)):471 doi:10.1186/s12967-025-06471-w.

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy.

Ding C, Ndiaye PS, Campbell SR, et al.

The Journal of clinical investigation 2025; (135(12)).

"Adrift From the World": Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study.

Chen BS, Seikus C, Ferguson J, et al.

Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2025; doi:10.1016/j.jval.2025.07.023.

Extraocular features of Leber hereditary optic neuropathy: A scoping review.

Ali L, Hazzard I, Tehrani NS, et al.

Journal of biological methods 2025; (12(2)):e99010055 doi:10.14440/jbm.2024.0113.

IT TAKES TWO TO TANGO: potential novel therapies for autosomal dominant optic atrophy.

Sampige R, Seaborn LEA, Pluenneke M, et al.

Frontiers in ophthalmology 2025; (5()):1688232 doi:10.3389/fopht.2025.1688232.

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report.

Murati Calderon RA, Landestoy G, Izquierdo N

Cureus 2025; (17(10)):e95622 doi:10.7759/cureus.95622.

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.

Rufa A, Plantone D, Bargagli A, et al.

Brain communications 2025; (7(6)):fcaf446 doi:10.1093/braincomms/fcaf446.

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

Levergood NR, Ko MW, Payne KK, Mackay DD

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2025; doi:10.1097/WNO.0000000000002428.

Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.

Kang EY, Tseng YJ, Peng WH, et al.

Science advances 2026; (12(8)):eadx7815 doi:10.1126/sciadv.adx7815.