A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy
Genet Med. 2025 Oct 1:101595. doi: 10.1016/j.gim.2025.101595. Online ahead of print. ABSTRACT PURPOSE: Hereditary optic atrophy (OA) represents one of the leading causes of blindness. A relatively large number of genes, many of which are implicated in mitochondrial function, are known to be involved in OA. For many affected individuals, however, a genetic cause still […]
Regulation of the PERK pathway attenuates hypoxia-induced apoptosis in a 661W photoreceptor cell model
Exp Eye Res. 2025 Oct 1:110667. doi: 10.1016/j.exer.2025.110667. Online ahead of print. ABSTRACT High-altitude retinopathy (HAR), characterized by retinal dysfunction under hypobaric hypoxia, remains mechanistically unclear. This study explored hypoxia-induced molecular injury in retinal photoreceptor cells using a hypoxic 661W cell model and identified potential therapeutic targets. Hypoxia triggered endoplasmic reticulum (ER) stress in 661W […]
GPX1-driven selenium nanoplatform reprograms MAMs-mediated organelle crosstalk to reverse inflammatory adipose expansion in thyroid eye disease
Theranostics. 2025 Aug 30;15(18):9601-9622. doi: 10.7150/thno.117582. eCollection 2025. ABSTRACT Background: Thyroid eye disease (TED) is a multifactorial autoimmune disorder with limited therapeutic options due to the complexity of its oxidative, metabolic, and inflammatory networks. This study aims to develop a selenium-based nanoplatform that targets mitochondria-ER interactions to reverse inflammatory adipose expansion in TED. Methods: We […]
Current status and solutions for AI ethics in ophthalmology: a bibliometric analysis
NPJ Digit Med. 2025 Oct 2;8(1):594. doi: 10.1038/s41746-025-01976-6. ABSTRACT Ophthalmology, an early adopter of medical artificial intelligence (AI), has made significant advancements, but ethical discussions limited. This bibliometric analysis reviewed 498 publications from Web of Science and Scopus (2000-2023) to explore the evolution, status, thematic trends, data modalities and their ethical focus, and solutions in […]
Targeted LC-MS profiling reveals dysregulated glycolytic flux and TCA cycle stalling in POAG plasma
Sci Rep. 2025 Oct 1;15(1):34212. doi: 10.1038/s41598-025-15836-6. ABSTRACT Glaucoma is the leading cause of irreversible blindness. Primary open-angle glaucoma (POAG) is the most common form globally and has been linked to mitochondrial dysfunction and energy deficiency. Plasma was used to investigate the energy metabolomic profiles of patients with POAG and controls, and to determine the […]
Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study
BMC Ophthalmol. 2025 Sep 30;25(1):520. doi: 10.1186/s12886-025-04194-6. ABSTRACT BACKGROUND: Primary mitochondrial myopathies (PMM) are disorders that involve defects in oxidative phosphorylation (OXPHOS) and impair mainly, but not exclusively, skeletal muscles. Progressive external ophthalmoplegia (PEO), eyelid ptosis, exercise intolerance and skeletal muscle weakness are the most common symptoms of myopathy in mitochondrial diseases, impairing ocular motility […]
Efficacy and safety of intravitreal rAAV2-ND4 therapy for Leber’s hereditary optic neuropathy
Eye (Lond). 2025 Sep 30. doi: 10.1038/s41433-025-03972-2. Online ahead of print. ABSTRACT BACKGROUND: This study aimed to assess the safety and efficacy of a rAAV2 carrying normal ND4 (rAAV2-ND4) (NR082) in individuals with visual loss due to LHON carrying the m.11778G>A mutation. Additionally, it aimed to determine a safe dose of NR082 for intravitreal injection. […]
Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome
Epileptic Disord. 2025 Sep 30. doi: 10.1002/epd2.70107. Online ahead of print. ABSTRACT OBJECTIVE: The ketogenic diet (KD) is the standard treatment for glucose transporter type 1 deficiency syndrome (GLUT1-DS), typically yielding seizure reduction and cognitive/motor gains. However, a small subset of patients shows limited or no clinical benefit. This phenomenon, referred to as “KD resistance,” […]
PGC1A Restores Mitochondrial Health to Attenuate EMT During Lens Epithelial Fibrosis via Regulating TFAM
Invest Ophthalmol Vis Sci. 2025 Sep 2;66(12):67. doi: 10.1167/iovs.66.12.67. ABSTRACT PURPOSE: Epithelial-mesenchymal transition (EMT) of lens epithelial cells (LECs) is a predominant pathological driver for fibrotic cataracts. This study explores the role and mechanism of peroxisome proliferator-activated receptor γ coactivator 1-α (PGC1A), a key mitochondrial regulator, in EMT of LECs. METHODS: RNA-sequencing analysis was applied […]
Subconjunctival Granuloma Caused by Dirofilaria repens in an Indoor Dog From Thailand: A Case Report and Mitochondrial Genome Analysis
Vet Ophthalmol. 2025 Sep 29. doi: 10.1111/vop.70094. Online ahead of print. ABSTRACT OBJECTIVE: To describe a subconjunctival granuloma caused by Dirofilaria repens in a dog from Rayong province, eastern Thailand, along with the successful treatment outcomes. The causative nematode was identified through morphological examination and molecular techniques. ANIMAL STUDIED: A 5-year-old female mixed-breed dog was […]