A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX
Ophthalmic Genet. 2023 Feb 2:1-4. doi: 10.1080/13816810.2023.2172190. Online ahead of print. ABSTRACT BACKGROUND: Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis. RESULTS: We report a case […]
Long-term blue light exposure impairs mitochondrial dynamics in the retina in light-induced retinal degeneration in vivo and in vitro
J Photochem Photobiol B. 2023 Mar;240:112654. doi: 10.1016/j.jphotobiol.2023.112654. Epub 2023 Jan 24. ABSTRACT Long-term light exposure, especially in the spectrum of blue light, frequently causes excessive oxidative stress in dry age-related macular degeneration (AMD). Here, to gain insight into the underlying mechanism, we focused on mitochondrial dynamics alterations under long-term exposure to blue light in […]
TiO2nanotubes induce early mitochondrial fission in BMMSCs and promote osseointegration
Biomed Mater. 2023 Feb 8;18(2). doi: 10.1088/1748-605X/acb7bc. ABSTRACT Nanotopography can promote osseointegration, but how bone marrow mesenchymal stem cells (BMMSCs) respond to this physical stimulus is unclear. Here, we found that early exposure of BMMSCs to nanotopography (6 h) caused mitochondrial fission rather than fusion, which was necessary for osseointegration. We analyzed the changes in […]
Early detection of visual impairment in young children using a smartphone-based deep learning system
Nat Med. 2023 Feb;29(2):493-503. doi: 10.1038/s41591-022-02180-9. Epub 2023 Jan 26. ABSTRACT Early detection of visual impairment is crucial but is frequently missed in young children, who are capable of only limited cooperation with standard vision tests. Although certain features of visually impaired children, such as facial appearance and ocular movements, can assist ophthalmic practice, applying […]
Molybdenum Cofactor Deficiency
2021 Dec 2 [updated 2023 Feb 2]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: Molybdenum cofactor deficiency (MoCD) represents a spectrum, with some individuals experiencing significant signs and symptoms in the neonatal […]
The amoebicidal effect of Torreya nucifera extract on Acanthamoeba lugdunensis
PLoS One. 2023 Feb 6;18(2):e0281141. doi: 10.1371/journal.pone.0281141. eCollection 2023. ABSTRACT As the number of contact lens users increases, contact lens induced corneal infection is becoming more common. Acanthamoeba keratitis (AK) is a type of those which is caused by Acanthamoeba species, and may cause severe ocular inflammation and visual loss. We evaluated whether Torreya nucifera […]
Leber’s Hereditary Optic Neuropathy with Mitochondrial DNA Mutation G11778A: A Systematic Literature Review and Meta-Analysis
Biomed Res Int. 2023 Jan 24;2023:1107866. doi: 10.1155/2023/1107866. eCollection 2023. ABSTRACT BACKGROUND: LHON is a progressive disease with early disease onset and male predominance, usually causing devastating visual loss to patients. These systematic review and meta-analysis are aimed at summarizing epidemiology, disease onset and progression, visual recovery, risk factors, and treatment options of Leber’s hereditary […]
A bibliometric analysis of the application of stem cells in glaucoma research from 1999 to 2022
Front Cell Dev Biol. 2023 Jan 18;11:1081898. doi: 10.3389/fcell.2023.1081898. eCollection 2023. ABSTRACT Background: Glaucoma, a neurodegenerative disease of the retina, is the leading cause of irreversible blindness. Stem cells have therapeutic potential for glaucoma. However, few bibliometric studies have been published in this field. Concerning a visual map, this article aims to characterize the research […]
Non-Coding RNAs Regulating Mitochondrial Functions and the Oxidative Stress Response as Putative Targets against Age-Related Macular Degeneration (AMD)
Int J Mol Sci. 2023 Jan 30;24(3):2636. doi: 10.3390/ijms24032636. ABSTRACT Age-related macular degeneration (AMD) is an ever-increasing, insidious disease which reduces the quality of life of millions of elderly people around the world. AMD is characterised by damage to the retinal pigment epithelium (RPE) in the macula region of the retina. The origins of this […]
Autophagy Requirements for Eye Lens Differentiation and Transparency
Cells. 2023 Feb 1;12(3):475. doi: 10.3390/cells12030475. ABSTRACT Recent evidence points to autophagy as an essential cellular requirement for achieving the mature structure, homeostasis, and transparency of the lens. Collective evidence from multiple laboratories using chick, mouse, primate, and human model systems provides evidence that classic autophagy structures, ranging from double-membrane autophagosomes to single-membrane autolysosomes, are […]