Omega-3 fatty acids promote neuroprotection, decreased apoptosis and reduced glial cell activation in the retina of a mouse model of OPA1-related autosomal dominant optic atrophy
Exp Eye Res. 2022 Feb;215:108901. doi: 10.1016/j.exer.2021.108901. Epub 2021 Dec 20. ABSTRACT The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation in a mouse model of OPA1-associated autosomal dominant optic atrophy (ADOA). The blood level of arachidonic acid (AA) and eicosapentaenoic acid (EPA) served to adjust […]
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 […]
Associations between OPA1, MFN1, and MFN2 polymorphisms and primary open angle glaucoma in Polish participants of European ancestry
Ophthalmic Genet. 2022 Feb;43(1):42-47. doi: 10.1080/13816810.2021.1970197. Epub 2021 Aug 23. ABSTRACT BACKGROUND: Glaucomatous optic nerve damage is caused by selective death of retinal ganglion cells (RGCs). Another condition with underlying loss of RGCs is autosomal dominant optic atrophy (ADOA). Majority of ADOA patients have mutations in OPA1, gene responsible for mitochondrial fusion final steps. Clinical […]
Sustained intracellular calcium rise mediates neuronal mitophagy in models of autosomal dominant optic atrophy
Cell Death Differ. 2022 Jan;29(1):167-177. doi: 10.1038/s41418-021-00847-3. Epub 2021 Aug 13. ABSTRACT Mitochondrial dysfunction and mitophagy are often hallmarks of neurodegenerative diseases such as autosomal dominant optic atrophy (ADOA) caused by mutations in the key mitochondrial dynamics protein optic atrophy 1 (Opa1). However, the second messengers linking mitochondrial dysfunction to initiation of mitophagy remain poorly […]
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, […]
First Description of Inheritance of a Postzygotic OPA1 Mosaic Variant
Genes (Basel). 2022 Mar 8;13(3):478. doi: 10.3390/genes13030478. ABSTRACT Optic atrophy 1 (MIM #165500) is caused by pathogenic variants in the gene OPA1 (OPA1 MITOCHONDRIAL DYNAMIN-LIKE GTPase, MIM *605290) and is inherited in an autosomal dominant manner. We describe a 6-year-old male patient with severe early onset manifestation of optic atrophy, whose parents are subjectively asymptomatic. […]
Comparison of the clinical and genetic features of autosomal dominant optic atrophy and normal tension glaucoma in young Chinese adults
Eye (Lond). 2022 Mar 10. doi: 10.1038/s41433-022-01990-y. Online ahead of print. ABSTRACT BACKGROUND/OBJECTIVES: To compare the clinical and optical coherence tomography (OCT) characteristics of autosomal dominant optic atrophy (ADOA) and normal tension glaucoma (NTG) in Chinese patients. SUBJECTS/METHODS: Twenty-four unrelated patients with ADOA and 21 unrelated patients with NTG, younger than 30 years, were enrolled […]