Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy
Invest Ophthalmol Vis Sci. 2020 May 11;61(5):9. doi: 10.1167/iovs.61.5.9. ABSTRACT PURPOSE: To compare lamina cribrosa (LC) morphology in patients with normal tension glaucoma (NTG) and autosomal-dominant optic atrophy (ADOA). METHODS: This cross-sectional study matched 24 patients diagnosed with ADOA (24 eyes) by age and retinal nerve fiber layer thickness with 48 patients diagnosed with NTG […]
Synthesis of Dideoxy-octonic Acid and Cyclic and Acyclic Derivatives Thereof
Org Lett. 2020 May 1;22(9):3373-3376. doi: 10.1021/acs.orglett.0c00842. Epub 2020 Apr 13. ABSTRACT Oxidative cleavage of N-acetyl-neuraminic acid (Neu5Ac, 1) leads to the open chain octonic acid (ADOA, 2), which under various conditions is transformed into an acyclic acid or ester or into a six- or five-membered octonic acid lactone and lactam, respectively. All reactions proceed […]
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. NO ABSTRACT PMID:31973973 | DOI:10.1016/j.jfo.2019.08.008
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration
Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31. ABSTRACT OBJECTIVE: Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown. […]
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 […]
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, […]
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 […]