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.

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy.

Inoue M, Himori N, Kunikata H, et al.

Acta ophthalmologica 2016; (94(7)):e580-e585 doi:10.1111/aos.12999.

Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency.

Kushnareva Y, Seong Y, Andreyev AY, et al.

Cell death & disease 2016; (7()):e2309 doi:10.1038/cddis.2016.160.

A neurodegenerative perspective on mitochondrial optic neuropathies.

Yu-Wai-Man P, Votruba M, Burté F, et al.

Acta neuropathologica 2016; (132(6)):789-806 doi:10.1007/s00401-016-1625-2.

[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.

The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses.

Majander A, João C, Rider AT, et al.

Investigative ophthalmology & visual science 2017; (58(1)):502-516 doi:10.1167/iovs.16-20309.

The short variant of the mitochondrial dynamin OPA1 maintains mitochondrial energetics and cristae structure.

Lee H, Smith SB, Yoon Y

The Journal of biological chemistry 2017; (292(17)):7115-7130 doi:10.1074/jbc.M116.762567.

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.

A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis.

Zhang J, Liu X, Liang X, et al.

Scientific reports 2017; (7(1)):5704 doi:10.1038/s41598-017-05571-y.

Dominant Optic Atrophy and Leber's Hereditary Optic Neuropathy: Update on Clinical Features and Current Therapeutic Approaches.

Chun BY, Rizzo JF

Seminars in pediatric neurology 2017; (24(2)):129-134 doi:10.1016/j.spen.2017.06.001.

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.

[Hereditary Optic Neuropathies].

Rüther K

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

Lamina cribrosa position and Bruch's membrane opening differences between anterior ischemic optic neuropathy and open-angle glaucoma.

Rebolleda G, Pérez-Sarriegui A, Díez-Álvarez L, et al.

European journal of ophthalmology 2019; (29(2)):202-209 doi:10.1177/1120672118782101.

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Li H, Jones EM, Li H, et al.

Ophthalmic genetics 2018; (39(5)):569-576 doi:10.1080/13816810.2018.1466337.

Mitochondrial dynamics: overview of molecular mechanisms.

Tilokani L, Nagashima S, Paupe V, Prudent J

Essays in biochemistry 2018; (62(3)):341-360 doi:10.1042/EBC20170104.

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.

[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.

[Leber's Hereditary Optic Neuropathy].

Priglinger C, Klopstock T, Rudolph G, Priglinger SG

Klinische Monatsblatter fur Augenheilkunde 2019; (236(11)):1271-1282 doi:10.1055/a-0972-1552.

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.

Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility.

Sun S, Erchova I, Sengpiel F, Votruba M

Investigative ophthalmology & visual science 2020; (61(6)):42 doi:10.1167/iovs.61.6.42.

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.

p32/C1QBP regulates OMA1-dependent proteolytic processing of OPA1 to maintain mitochondrial connectivity related to mitochondrial dysfunction and apoptosis.

Noh S, Phorl S, Naskar R, et al.

Scientific reports 2020; (10(1)):10618 doi:10.1038/s41598-020-67457-w.

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.

Detecting Progression in Patients With Different Clinical Presentations of Primary Open-angle Glaucoma.

Abu SL, Marín-Franch I, Racette L

Journal of glaucoma 2021; (30(9)):769-775 doi:10.1097/IJG.0000000000001843.

A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1.

Erchova I, Sun S, Votruba M

Frontiers in neurology 2021; (12()):641259 doi:10.3389/fneur.2021.641259.

Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry.

Milanowski P, Kosior-Jarecka E, Łukasik U, et al.

Ophthalmic genetics 2022; (43(1)):42-47 doi:10.1080/13816810.2021.1970197.

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.

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.

Jüschke C, Klopstock T, Catarino CB, et al.

Molecular therapy. Nucleic acids 2021; (26()):1186-1197 doi:10.1016/j.omtn.2021.10.019.

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.

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.

OPA1 regulation of mitochondrial dynamics in skeletal and cardiac muscle.

Noone J, O'Gorman DJ, Kenny HC

Trends in endocrinology and metabolism: TEM 2022; (33(10)):710-721 doi:10.1016/j.tem.2022.07.003.

The importance of genome sequencing: unraveling SSBP1 variant missed by exome sequencing.

Jun JW, Seo Y, Han SH, Han J

Ophthalmic genetics 2023; (44(3)):286-290 doi:10.1080/13816810.2022.2109685.

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.

Idebenone Treatment in Patients with OPA1-Dominant Optic Atrophy: A Prospective Phase 2 Trial.

Valentin K, Georgi T, Riedl R, et al.

Neuro-ophthalmology (Aeolus Press) 2023; (47(5-6)):237-247 doi:10.1080/01658107.2023.2251575.

[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.

Targeting DRP1 with Mdivi-1 to correct mitochondrial abnormalities in ADOA+ syndrome.

Lin Y, Wang D, Li B, et al.

JCI insight 2024; (9(15)).

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.

Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.

Rozanes E, Ben-Arzi A, Boas H, et al.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2025; (45(2)):153-157 doi:10.1097/WNO.0000000000002232.

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.

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)).

The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants.

Halawani MA, Badeeb NO

American journal of ophthalmology case reports 2025; (38()):102346 doi:10.1016/j.ajoc.2025.102346.

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy.

Yao SQ, Liang JJ, Zhou H, et al.

Cell death discovery 2025; (11(1)):259 doi:10.1038/s41420-025-02442-8.

"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.

Chromatic pupil campimetry as objective diagnostic tool for progressive optic neuropathies.

Edelmayer MV, Strasser T, Jung R, et al.

Documenta ophthalmologica. Advances in ophthalmology 2025; doi:10.1007/s10633-025-10054-x.

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.

Advanced therapies for inherited optic neuropathies.

Wong DCS, Makam R, Yu-Wai-Man P

Eye (London, England) 2026; (40(2)):177-184 doi:10.1038/s41433-025-04109-1.

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.

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.