In Vivo Imaging of the Schlemm’s Canal and the Response to Selective Laser Trabeculoplasty
Am J Ophthalmol. 2022 Feb;234:126-137. doi: 10.1016/j.ajo.2021.07.002. Epub 2021 Jul 18. ABSTRACT OBJECTIVE: To evaluate the presence of angle dysgenesis on ASOCT (anterior segment optical coherence tomography) (ADoA) as a predictive factor in determining outcomes of selective laser trabeculoplasty (SLT). DESIGN: A prospective clinical cohort study. SUBJECTS: Patients with juvenile-onset open-angle glaucoma (JOAG) without angle […]
Optical coherence tomography angiography in the multimodal assessment of the retinal posterior pole in autosomal dominant optic atrophy
Acta Ophthalmol. 2022 May;100(3):e798-e806. doi: 10.1111/aos.14972. Epub 2021 Jul 11. ABSTRACT PURPOSE: To assess retinal vascular involvement in patients with autosomal dominant optic atrophy (ADOA) genetically confirmed by the presence of the OPA1 (Optic Atrophy 1) gene mutation using a multimodal protocol of investigation of retinal posterior pole. METHODS: In this cross-sectional, case-control, observational study, […]
A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1
Front Neurol. 2021 Apr 13;12:641259. doi: 10.3389/fneur.2021.641259. eCollection 2021. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is an ophthalmological condition associated primarily with mutations in the OPA1 gene. It has variable onset, sometimes juvenile, but in other patients, the disease does not manifest until adult middle age despite the presence of a pathological mutation. Thus, individuals […]
Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants
Mol Genet Genomics. 2021 Jul;296(4):845-862. doi: 10.1007/s00438-021-01783-0. Epub 2021 Apr 21. ABSTRACT Autosomal dominant optic atrophy (ADOA) is an important cause of irreversible visual impairment in children and adolescents. About 60-90% of ADOA is caused by the pathogenic variants of OPA1 gene. By evaluating the pathogenicity of OPA1 variants and summarizing the relationship between the […]
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. ABSTRACT BACKGROUND: Autosomal Dominant Optic Atrophy (ADOA) is caused by mutations in the Optic Atrophy 1 Gene which disrupts the OPA1 protein. This disruption affects the normal function of the protein; impairs fusion of the mitochondrial inner membrane; and prevents normal OPA1 protein degradation. These […]
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy
Transl Vis Sci Technol. 2020 Jul 8;9(8):11. doi: 10.1167/tvst.9.8.11. eCollection 2020 Jul. ABSTRACT PURPOSE: Leber hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are the two commonest forms of hereditary optic neuropathy. The aim of this study was to comprehensively investigate the incidence and spectrum of mutations in patients with suspected hereditary optic […]
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Mol Ther Nucleic Acids. 2021 Oct 21;26:1186-1197. doi: 10.1016/j.omtn.2021.10.019. eCollection 2021 Dec 3. ABSTRACT Autosomal dominant optic atrophy (ADOA) is frequently caused by mutations in the optic atrophy 1 (OPA1) gene, with haploinsufficiency being the major genetic pathomechanism. Almost 30% of the OPA1-associated cases suffer from splice defects. We identified a novel OPA1 mutation, c.1065+5G>A, […]
Induced Pluripotent Stem Cells for Inherited Optic Neuropathies-Disease Modeling and Therapeutic Development
J Neuroophthalmol. 2022 Mar 1;42(1):35-44. doi: 10.1097/WNO.0000000000001375. Epub 2021 Sep 30. ABSTRACT BACKGROUND: Inherited optic neuropathies (IONs) cause progressive irreversible visual loss in children and young adults. There are limited disease-modifying treatments, and most patients progress to become severely visually impaired, fulfilling the legal criteria for blind registration. The seminal discovery of the technique for […]
Red Light Irradiation In Vivo Upregulates DJ-1 in the Retinal Ganglion Cell Layer and Protects against Axotomy-Related Dendritic Pruning
Int J Mol Sci. 2021 Aug 4;22(16):8380. doi: 10.3390/ijms22168380. ABSTRACT Retinal ganglion cells (RGCs) undergo dendritic pruning in a variety of neurodegenerative diseases, including glaucoma and autosomal dominant optic atrophy (ADOA). Axotomising RGCs by severing the optic nerve generates an acute model of RGC dendropathy, which can be utilized to assess the therapeutic potential of […]
Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy
Acta Ophthalmol. 2022 Nov;100(7):797-804. doi: 10.1111/aos.15102. Epub 2022 Feb 10. ABSTRACT PURPOSE: The purpose of the study was to evaluate vision-related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA). METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 […]