Whole-exome sequencing reveals sex difference in the genetic architecture of high myopia
J Med Genet. 2025 Mar 12:jmg-2024-110467. doi: 10.1136/jmg-2024-110467. Online ahead of print. ABSTRACT BACKGROUND: High myopia (HM) is one of the leading causes of visual impairment and blindness worldwide. To understand the sex difference in the genetic architecture of HM, which may contribute to understanding HM aetiology and help further the realisation of precision medicine […]
Ocular Surface Changes Differ Significantly Between Oxaliplatin- and Diabetes-Induced Polyneuropathy
Int J Mol Sci. 2025 Feb 22;26(5):1884. doi: 10.3390/ijms26051884. ABSTRACT Dry eye disease (DED) is often seen in patients with polyneuropathies (PNs), but the relationship between the different forms of PNs and DED is not known. In oxaliplatin (Ox-)-treated mice with PNs, morphological changes in the sciatic nerve (SN), dorsal root ganglia (DRG), trigeminal ganglia […]
Spectral and color temperature dependence of LED exposure on retinal damage and the protective effects of neohesperidin
J Photochem Photobiol B. 2025 Mar 8;266:113148. doi: 10.1016/j.jphotobiol.2025.113148. Online ahead of print. ABSTRACT PURPOSE: To investigate the effects of LEDs with different spectra and correlated color temperatures on the retina, as well as the protective role of neohesperidin(NHP). METHODS: Sprague-Dawley (SD) rats and 661W cells were divided into four groups: 2700K conventional LED group […]
Expert consensus on clinical genome sequencing interpretation and reporting
Yi Chuan. 2025 Mar;47(3):314-328. doi: 10.16288/j.yczz.24-296. ABSTRACT Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual’s nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for […]
SIRT3 mitigates dry eye disease through the activation of autophagy by deacetylation of FOXO1
Exp Eye Res. 2025 Mar 8:110328. doi: 10.1016/j.exer.2025.110328. Online ahead of print. ABSTRACT Dry eye disease (DED) is a complex ocular condition characterized by oxidative stress, inflammation, and apoptosis. An increasing number of studies suggest that Sirtuin3 (SIRT3), a mitochondrial deacetylase, may offer protection against related pathologies. Despite these indications, the precise function and underlying […]
Leber’s Hereditary Optic Neuropathy with Retinal Hemorrhage
Neuroophthalmology. 2024 Aug 19;49(2):127-131. doi: 10.1080/01658107.2024.2389957. eCollection 2025. ABSTRACT Leber’s hereditary optic neuropathy (LHON) causes subacute visual loss, and, in the acute phase, the optic disc shows hyperemia, peripapillary telangiectasia, and swelling of the retinal nerve fiber layer (RNFL). Rarely, retinal hemorrhage may be present. In this study, we investigated LHON cases with retinal hemorrhage […]
Nutrient supplementation mitigates retinal dysfunction in Acox1 knockout mice with impaired peroxisomal fatty acid oxidation
J Adv Res. 2025 Mar 4:S2090-1232(25)00145-6. doi: 10.1016/j.jare.2025.03.004. Online ahead of print. ABSTRACT INTRODUCTION: Dyslipidemia contributes to many retinal diseases, but underlying lipid processing pathways are not fully understood. Peroxisomes oxidize very long-chain fatty acids and generate docosahexaenoic acid (DHA). Mutations in peroxisomal genes can result in severe neural retinal dysfunction. However, therapeutic approaches for […]
Sensitive organelles of U251 MG glioblastomas to boron neutron capture therapy
Int J Radiat Biol. 2025 Mar 6:1-9. doi: 10.1080/09553002.2025.2473978. Online ahead of print. ABSTRACT PURPOSE: The micro-distribution of boron compounds within cells influences the effectiveness of boron neutron capture therapy (BNCT) in killing tumor cells. Boron neutron capture therapy-sensitive organelles within the range of α particles and 7Li recoil nuclei can enhance killing effects on […]
Isolated Mitochondrial Transplantation as a Novel Treatment for Corneal Chemical Burns
Invest Ophthalmol Vis Sci. 2025 Mar 3;66(3):14. doi: 10.1167/iovs.66.3.14. ABSTRACT PURPOSE: This study aimed to investigate the therapeutic potential of isolated mitochondrial transplantation for the restoration of corneal surface injury in mice after corneal chemical burn. METHODS: Mitochondria were isolated from mesenchymal stem cells via ultracentrifugation, followed by an assessment of their purity and viability. […]
Molecular Mechanisms Limiting the Therapeutic Window of AAV Gene Therapy in Mouse Models of Blue Cone Monochromacy
bioRxiv [Preprint]. 2025 Feb 16:2025.02.14.638316. doi: 10.1101/2025.02.14.638316. ABSTRACT Blue cone monochromacy (BCM) is an X-linked retinal disorder caused by mutations in the OPN1LW/OPN1MW gene locus, resulting in impaired cone function and structural degeneration. We conducted a comparative analysis of AAV-mediated gene therapy in Opn1lw/Opn1mw double knockout (DKO) and Opn1mw C198R /Opn1sw -/- (C198R) BCM mouse […]