Peripapillary and macular morpho-vascular changes in patients with genetic or clinical diagnosis of autosomal dominant optic atrophy: a case-control study
Graefes Arch Clin Exp Ophthalmol. 2019 May;257(5):1019-1027. doi: 10.1007/s00417-019-04267-5. Epub 2019 Feb 24. ABSTRACT PURPOSE: To evaluate the macular and peripapillary morpho-vascular changes in ADOA, using optical coherence tomography (OCT) and OCT angiography (OCTA). METHODS: Prospectively defined, cross-sectional case-control study. Consecutive patients with a genetic or clinical diagnosis of ADOA along with age- and sex-matched […]
Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies
Klin Monbl Augenheilkd. 2018 Nov;235(11):1235-1241. doi: 10.1055/a-0759-2094. Epub 2018 Nov 20. ABSTRACT Hereditary optic atrophies are a heterogeneous group of rare degenerative disease affecting the retinal ganglion cells and their axons which form the optic nerve. With an estimated prevalence of 1 : 10 000 to 1 : 20 000, hereditary optic atrophies in their […]
Mitochondrial pathophysiology beyond the retinal ganglion cell: occipital GABA is decreased in autosomal dominant optic neuropathy
Graefes Arch Clin Exp Ophthalmol. 2018 Dec;256(12):2341-2348. doi: 10.1007/s00417-018-4153-z. Epub 2018 Oct 15. ABSTRACT PURPOSE: It has remained a mystery why some genetic mitochondrial disorders affect predominantly specific cell types such as the retinal ganglion cell. This is particularly intriguing concerning retinal and cortical function since they are tightly linked in health and disease. Autosomal […]
Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation
Front Cell Dev Biol. 2018 Sep 19;6:103. doi: 10.3389/fcell.2018.00103. eCollection 2018. ABSTRACT Background: Autosomal dominant optic atrophy (ADOA) is usually caused by mutations in the essential gene, OPA1. This encodes a ubiquitous protein involved in mitochondrial dynamics, hence tissue specificity is not understood. Dysregulated mitophagy (mitochondria recycling) is implicated in ADOA, being increased in OPA1 […]
Genetic analysis in a cohort of patients with hereditary optic neuropathies in Southwest of China
Mitochondrion. 2019 May;46:327-333. doi: 10.1016/j.mito.2018.09.002. Epub 2018 Sep 7. ABSTRACT We report the results of molecular screening in 121 patients with suspected hereditary optic neuropathies. The 34 primary and 9 secondary LHON mutations were screened in all the patients. In the familial cases, OPA1 was also tested when negative finding for the mtDNA mutations screening. […]
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. […]
Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy
Nat Commun. 2020 Aug 12;11(1):4029. doi: 10.1038/s41467-020-17821-1. ABSTRACT In autosomal dominant optic atrophy (ADOA), caused by mutations in the mitochondrial cristae biogenesis and fusion protein optic atrophy 1 (Opa1), retinal ganglion cell (RGC) dysfunction and visual loss occur by unknown mechanisms. Here, we show a role for autophagy in ADOA pathogenesis. In RGCs expressing mutated […]