Genome-wide screening reveals the genetic basis of mammalian embryonic eye development
BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. ABSTRACT BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental […]
Orbicularis Oculi Muscle Immunohistochemical, Metabolic, and Morphometric Differences in Affected and Nonaffected Sides in Hemifacial Spasm vs Healthy Subjects
J Neuroophthalmol. 2022 Dec 6. doi: 10.1097/WNO.0000000000001770. Online ahead of print. ABSTRACT BACKGROUND: Subtle morphological alterations have been reported even in the nonaffected side of the orbicularis oculi muscle in patients with hemifacial spasm. However, no previous study assessed immunohistochemical, metabolic, and morphometric alterations in orbicularis oculi muscle fibers in affected and nonaffected sides in […]
Kearns-Sayre Syndrome Masquerading as Myasthenia Gravis
Retin Cases Brief Rep. 2022 Dec 22. doi: 10.1097/ICB.0000000000001397. Online ahead of print. ABSTRACT PURPOSE: Kearns-Sayre syndrome (KSS) is a mitochondrial DNA (mtDNA) deletion syndrome that is characterized by the triad of onset commonly before age twenty, pigmentary retinopathy, and chronic progressive external ophthalmoplegia. Here we present a case of KSS masquerading as myasthenia gravis […]
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 […]
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 […]