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 […]
Vision-related quality of life and visual ability in patients with autosomal dominant optic atrophy
Acta Ophthalmol. 2022 Nov;100(7):797-804. doi: 10.1111/aos.15102. Epub 2022 Feb 10. ABSTRACT PURPOSE: The purpose of the study was to evaluate vision-related quality of life and visual ability in patients with OPA1 autosomal dominant optic atrophy (ADOA). METHODS: This cross-sectional, observational study included 145 participants with a mutation in the OPA1 gene associated with ADOA, 63 […]
Knee osteoarthritis accelerates amyloid beta deposition and neurodegeneration in a mouse model of Alzheimer’s disease
Mol Brain. 2023 Jan 2;16(1):1. doi: 10.1186/s13041-022-00986-9. ABSTRACT Knee osteoarthritis (OA) is characterized by knee cartilage degeneration and secondary bone hyperplasia, resulting in pain, stiffness, and gait disturbance. The relationship between knee OA and neurodegenerative diseases is still unclear. This study used an Alzheimer’s disease (AD) mouse model to observe whether osteoarthritis accelerates dementia progression […]
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 […]