The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Brain. 2025 Nov 14:awaf430. doi: 10.1093/brain/awaf430. Online ahead of print. ABSTRACT This retrospective study on X-linked PDHA1-related pyruvate dehydrogenase complex (PDHc) deficiency combined a systematic literature review with a multicenter survey exploring genotypes, phenotypes, and survival. Data from 891 individuals (45% unpublished) were included. Of note, 53% of cases were females. Median age at last […]
Ultrasonic biomicroscope-guided radiofrequency ablation of the ciliary body in a rabbit glaucoma model
Sci Rep. 2025 Nov 14;15(1):40012. doi: 10.1038/s41598-025-23784-4. ABSTRACT Destruction of the ciliary body is regarded as a potential way to lower intraocular pressure (IOP) and treat glaucoma patients. This study evaluated the IOP-lowering capability of a novel device for ciliary body radiofrequency ablation (RFA) in a rabbit glaucoma model. The mechanism of RFA-induced IOP reduction […]
The Pedigree Study of Leber’s Hereditary Optic Neuropathy in Korean Population
Semin Ophthalmol. 2025 Nov 14:1-5. doi: 10.1080/08820538.2025.2588702. Online ahead of print. ABSTRACT PURPOSE: To investigate the pedigree-based penetrance analysis in Korean Leber hereditary optic neuropathy (LHON). METHODS: The pedigrees of 32 LHON patients’ families were thoroughly examined. Index patients were probands diagnosed by mitochondrial DNA (mtDNA) mutation at the position of 11,778 or 11,484, while […]
Effects of Benzalkonium Chloride, a Preservative in Topical Drugs, on the Barrier Function of Human Corneal Epithelial Cells
Transl Vis Sci Technol. 2025 Nov 3;14(11):16. doi: 10.1167/tvst.14.11.16. ABSTRACT PURPOSE: To assess the influence of varying concentrations of benzalkonium chloride (BAK), the predominant preservative utilized in ophthalmic formulations, on the barrier integrity and mitochondrial function of primary cultured human corneal epithelial cells (HCECs). METHODS: Primary HCEC monolayers were exposed to BAK at concentrations ranging […]
Mitogenomic architecture and phylogenetic placement of Ctenophthalmus yunnanus and Frontopsylla diqingensis: insights from comparative genomics
Front Vet Sci. 2025 Oct 29;12:1683581. doi: 10.3389/fvets.2025.1683581. eCollection 2025. ABSTRACT Fleas are among the most common hematophagous ectoparasites of mammals. In addition to causing allergic dermatitis and anemia, they can transmit various pathogens. Currently, molecular data on fleas remain relatively scarce. This study sequenced the complete mitochondrial genomes of Ctenophthalmus yunnanus (first mitogenome reported) […]
Identification and validation of key mitophagy-related biomarkers in the pathogenesis of proliferative diabetic retinopathy
Front Endocrinol (Lausanne). 2025 Oct 29;16:1652898. doi: 10.3389/fendo.2025.1652898. eCollection 2025. ABSTRACT INTRODUCTION: Diabetic retinopathy (DR) is one of the most common microvascular complications of diabetes mellitus, and proliferative diabetic retinopathy (PDR) represents its advanced stage. The etiology of PDR is complex. Mitophagy, the selective degradation of dysfunctional mitochondria, is crucial for cellular homeostasis and has […]
Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy
Brain. 2025 Nov 14:awaf422. doi: 10.1093/brain/awaf422. Online ahead of print. ABSTRACT Our understanding of the genetic landscape of inherited optic neuropathies has grown significantly over the past decades, and it is now known to involve many genes found in both the nuclear and mitochondrial genomes, exhibiting all possible inheritance patterns. Furthermore, pathogenic variants in nuclear […]
The roles of glycerophospholipids in the aging retina and age-related macular degeneration
Graefes Arch Clin Exp Ophthalmol. 2025 Nov 13. doi: 10.1007/s00417-025-07011-4. Online ahead of print. ABSTRACT Glycerophospholipids (GPs) are integral constituents of cellular membranes, and play a crucial role in the regulation of lipid metabolism homeostasis and physiological conditions. However, pathological alterations associated with aging, such as variations in plasma GP concentrations, disruptions in intercellular GP […]
Update on Nicotinamide and Its Application in the Management of Glaucoma
Int J Mol Sci. 2025 Nov 6;26(21):10789. doi: 10.3390/ijms262110789. ABSTRACT Glaucoma continues to be a primary contributor to permanent vision loss worldwide, frequently advancing even when intraocular pressure management is clinically adequate. Accumulating research emphasizes the metabolic susceptibility of retinal ganglion cells (RGCs), specifically concerning the progressive depletion of nicotinamide adenine dinucleotide (NAD+), a pivotal […]
Dry Eye Disease and Psychiatric Disorders: Neuroimmune Mechanisms and Therapeutic Perspectives
Int J Mol Sci. 2025 Nov 3;26(21):10699. doi: 10.3390/ijms262110699. ABSTRACT Dry eye disease (DED) is a highly prevalent multifactorial disorder of the ocular surface that extends beyond local tear film pathology to involve systemic immune, neuroendocrine, and neurosensory mechanisms. Increasing evidence reveals a strong and bidirectional association between DED and psychiatric disorders, particularly depression, anxiety, […]