Thickness mapping of individual retinal layers and sectors by Spectralis SD-OCT in Autosomal Dominant Optic Atrophy
Acta Ophthalmol. 2018 May;96(3):251-256. doi: 10.1111/aos.13588. Epub 2017 Nov 1. ABSTRACT PURPOSE: To assess layer- and location-specific retinal thickness deficits in autosomal dominant optic atrophy (ADOA) using Spectralis SD-OCT. METHODS: This cross-sectional study included 41 ADOA patients with OPA1 exon 28 (2826delT) mutation [age, 8.6-83.5 years; best-corrected visual acuity (BCVA), 8-89 Early Treatment Diabetic Retinopathy […]
Mitochondrial disorders of the retinal ganglion cells and the optic nerve
Mitochondrion. 2018 Sep;42:1-10. doi: 10.1016/j.mito.2017.10.003. Epub 2017 Oct 18. ABSTRACT OBJECTIVES: To summarise and discuss recent findings and future perspectives concerning mitochondrial disorders (MIDs) affecting the retinal ganglion cells and the optic nerve (mitochondrial optic neuropathy. MON). METHOD: Literature review. RESULTS: MON in MIDs is more frequent than usually anticipated. MON may occur in specific […]
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. […]
Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C
Metab Brain Dis. 2019 Aug;34(4):1023-1027. doi: 10.1007/s11011-019-00425-0. Epub 2019 Jun 1. ABSTRACT OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the acoustic […]
Metabolic stroke in a patient with bi-allelic OPA1 mutations
Metab Brain Dis. 2019 Aug;34(4):1043-1048. doi: 10.1007/s11011-019-00415-2. Epub 2019 Apr 10. ABSTRACT OPA1 related disorders include: classic autosomal dominant optic atrophy syndrome (ADOA), ADOA plus syndrome and a bi-allelic OPA1 complex neurological disorder. We describe metabolic stroke in a patient with bi-allelic OPA1 mutations. A twelve-year old girl presented with a complex neurological disorder that […]
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 […]
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 […]