Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy
Clin Genet. 2026 Jun 27. doi: 10.1111/cge.70203. Online ahead of print. ABSTRACT Hereditary optic atrophy is characterized by degeneration of retinal ganglion cells and may result from a wide range of genetic etiologies. While pathogenic variants in OPA1 and primary mitochondrial variants causing Leber hereditary optic neuropathy (LHON) account for a substantial proportion of cases, […]
Analysis of genetic risk factors for Leber hereditary optic neuropathy in the Polish population
J Appl Genet. 2026 Jun 27. doi: 10.1007/s13353-026-01090-7. Online ahead of print. ABSTRACT Leber hereditary optic neuropathy (LHON) is primarily caused by pathogenic mitochondrial DNA (mtDNA) variants, most commonly the m.11778G>A variant in the MT-ND4 gene. The presence of this variant alone is insufficient to trigger disease symptoms, of which vision loss is the hallmark. […]
Comprehensive, High-Spatiotemporal-Resolution Intravital Two-Photon Imaging of the Mouse Conventional Outflow Pathway: Green Intravital Imaging
Invest Ophthalmol Vis Sci. 2026 Jun 1;67(6):53. doi: 10.1167/iovs.67.6.53. ABSTRACT PURPOSE: To develop an intravital imaging method that comprehensively shows the mouse conventional outflow pathway at high spatiotemporal resolution and to investigate the fine structures and dynamics within this pathway. METHODS: Intravital two-photon imaging was performed using Green, Prox1-reporter, and mito-Dendra2 mice. Schlemm’s canal (SC) […]
Oxidative Stress in Glaucoma: From Pathogenic Mechanisms to Emerging Antioxidant Therapies
Antioxidants (Basel). 2026 Jun 14;15(6):751. doi: 10.3390/antiox15060751. ABSTRACT Glaucoma is the leading cause of irreversible blindness worldwide and is characterized by progressive retinal ganglion cell (RGC) loss and optic nerve degeneration. While elevated intraocular pressure (IOP) remains the primary modifiable risk factor, a certain proportion of patients continue to deteriorate despite adequate IOP control, pointing […]
Epigenetic-Mitochondrial-Metabolic Crosstalk in Retinal Pigment Epithelium (RPE) Dysfunction in Age-Related Macular Degeneration (AMD)
Antioxidants (Basel). 2026 Jun 4;15(6):713. doi: 10.3390/antiox15060713. ABSTRACT Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in older adults and is characterized by progressive dysfunction of the retinal pigment epithelium (RPE). Although genetic susceptibility and environmental exposure both contribute to disease risk, the mechanisms through which chronic metabolic and oxidative stress […]
Mitochondrial Dysfunction and Oxidative Stress in Retinal Degeneration: Mechanisms, Biomarkers, and Therapeutic Perspectives
Curr Issues Mol Biol. 2026 Jun 11;48(6):612. doi: 10.3390/cimb48060612. ABSTRACT Mitochondrial dysfunction and oxidative stress are increasingly recognized as key contributors to the development and progression of retinal degenerative diseases, including age-related macular degeneration and inherited retinal dystrophies. Growing evidence suggests that alterations in mitochondrial function, excessive production of reactive oxygen species, defective mitophagy, and […]
An In Vitro Evaluation of a New Approach in AMD: Effects of the Combination of Resveratrol and Anti-VEGFs on ARPE-19 Cells
Biomolecules. 2026 Jun 15;16(6):883. doi: 10.3390/biom16060883. ABSTRACT Anti-vascular endothelial growth factor agents (anti-VEGFs) are the cornerstone of treatment for neovascular age-related macular degeneration (AMD). Resveratrol is a natural polyphenol with well-established antioxidant and anti-apoptotic properties. This study investigated whether resveratrol exerts cytoprotective effects when combined with anti-VEGFs on ARPE-19 cells in vitro. Cells were treated […]
Calcium at the Helm: Mechanisms and Therapeutic Targets in the Retinal Neurovascular Unit
Biomolecules. 2026 May 22;16(6):763. doi: 10.3390/biom16060763. ABSTRACT Retinal neurovascular unit (RNVU) dysfunction underlies major blinding and neurodegenerative conditions including glaucoma, diabetic retinopathy (DR), age-related macular degeneration (AMD), retinal ischemia-reperfusion (RIR) injury, and Alzheimer’s disease (AD)-associated retinopathy. Within the RNVU, calcium ions coordinate neurotransmission, glial activation, vascular tone, and blood-retinal barrier maintenance, and calcium dysregulation is […]
Repeated Low-Level Red-Light Therapy for Childhood Myopia: Efficacy, Mechanisms, Rebound Effects, Safety Boundaries, and Clinical Standardization
Photodiagnosis Photodyn Ther. 2026 Jun 25:105554. doi: 10.1016/j.pdpdt.2026.105554. Online ahead of print. ABSTRACT Repeated low-level red-light therapy (RLRL) has emerged as a promising ocular photobiomodulation strategy for childhood myopia control. Published randomized trials have reported substantial reductions in axial elongation and refractive progression, and some studies have described apparent axial shortening during active treatment. However, […]
SIRT4 Alleviates Retinal Ischemia-Reperfusion Injury Via Mediating Astrocytes Lipid Metabolism and Mitochondrial Function
Invest Ophthalmol Vis Sci. 2026 Jun 1;67(6):49. doi: 10.1167/iovs.67.6.49. ABSTRACT PURPOSE: To investigate whether SIRT4 protects the optic nerve by regulating mitochondrial function and lipid metabolism in neurotoxic reactive astrocytes in the retinal ischemia-reperfusion injury. METHODS: Using SIRT4 knockout, wild-type, and overexpressing mouse ischemia-reperfusion (I/R) models, we assessed retinal ganglion cell loss, protein expression (SIRT4, […]