The effect of serifs and stroke contrast on low vision reading
Acta Psychol (Amst). 2023 Feb;232:103810. doi: 10.1016/j.actpsy.2022.103810. Epub 2022 Dec 21. ABSTRACT PURPOSE: Patients with low vision are generally recommended to use the same fonts as individuals with normal vision. However, we are yet to fully understand whether stroke width and serifs (small ornamentations at stroke endings) can increase readability. This study’s purpose was to […]
Expectation-Maximization-Based Simultaneous Localization and Mapping for Millimeter-Wave Communication Systems
Sensors (Basel). 2022 Sep 14;22(18):6941. doi: 10.3390/s22186941. ABSTRACT In this paper, we proposed a novel expectation-maximization-based simultaneous localization and mapping (SLAM) algorithm for millimeter-wave (mmW) communication systems. By fully exploiting the geometric relationship among the access point (AP) positions, the angle difference of arrival (ADOA) from the APs and the mobile terminal (MT) position, and […]
Reproducibility of retinal vessel density among three different OCTA devices in ADOA patients
Graefes Arch Clin Exp Ophthalmol. 2023 Jan;261(1):277-279. doi: 10.1007/s00417-022-05788-2. Epub 2022 Aug 8. NO ABSTRACT PMID:35939119 | DOI:10.1007/s00417-022-05788-2
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis
BMC Ophthalmol. 2022 Jul 26;22(1):322. doi: 10.1186/s12886-022-02546-0. ABSTRACT PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations. METHODS: Detailed ophthalmic examinations were performed. Targeted next-generation sequencing (NGS) was conducted in the eleven probands using a custom […]
Prevalence of Macular Microcystoid Lacunae in Autosomal Dominant Optic Atrophy Assessed With Adaptive Optics
J Neuroophthalmol. 2022 Sep 1;42(3):328-333. doi: 10.1097/WNO.0000000000001592. Epub 2022 Mar 30. ABSTRACT BACKGROUND: To assess the prevalence of macular microcystoid lacunae in patients with autosomal dominant optic atrophy (ADOA) and its association with visual function and inner retinal morphology. METHODS: The study included 140 participants with ADOA, with a mean age of 44 (SD ±19, […]
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 […]
Rescue of cell death and inflammation of a mouse model of complex 1-mediated vision loss by repurposed drug molecules
Hum Mol Genet. 2017 Dec 15;26(24):4929-4936. doi: 10.1093/hmg/ddx373. ABSTRACT Inherited mitochondrial optic neuropathies, such as Leber’s hereditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitochondrial proteins that lead to defects in mitochondrial complex 1-driven ATP synthesis, and cause specific retinal ganglion cell (RGC) loss. Complex 1 defects also occur […]
Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay
PLoS One. 2017 Aug 25;12(8):e0183866. doi: 10.1371/journal.pone.0183866. eCollection 2017. ABSTRACT Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In the majority of patients it is caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded by nonsense-mediated […]
A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis
Sci Rep. 2017 Jul 18;7(1):5704. doi: 10.1038/s41598-017-05571-y. ABSTRACT Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated with mutations in OPA1 gene. Our previous investigation identified the c.1198C > G (p.P400A) mutation in the OPA1 […]