Patient induced pluripotent stem cells identify specificities of a reticular pseudodrusen phenotype in age-related macular degeneration
Genome Med. 2026 May 10;18(1):54. doi: 10.1186/s13073-026-01658-2. ABSTRACT BACKGROUND: Age-related macular degeneration (AMD) is a leading cause of vision loss. Reticular pseudodrusen (RPD), deposits on the apical side of the retinal pigment epithelium (RPE), signify a distinctive and critical AMD phenotype. Yet, their molecular basis and relationship to the conventional drusen seen in AMD remain […]
Genetics of the retina
Handb Clin Neurol. 2026;217:21-33. doi: 10.1016/B978-0-443-22193-4.00012-3. ABSTRACT The retina is a vital component of the visual system, converting light into neural signals processed by the brain. Its structure includes photoreceptors, bipolar cells, and ganglion cells, each contributing to vision. Genetics play a critical role in retinal development and health, with mutations in over 270 genes […]
Tempol alleviates autoimmune uveitis by targeting the oxidative stress-mediated cGAS-STING-NF-kB signaling pathway to restore M1/M2 macrophage polarization balance
Int Immunopharmacol. 2026 May 8;182:116798. doi: 10.1016/j.intimp.2026.116798. Online ahead of print. ABSTRACT PURPOSE: To evaluate whether Tempol alleviates autoimmune uveitis by attenuating oxidative stress-associated mitochondrial injury, reducing cytosolic mitochondrial DNA (mtDNA) accumulation, and suppressing activation of the cyclic GMP-AMP synthase-stimulator of interferon genes-nuclear factor kappa-B (cGAS-STING-NF-κB) pathway, thereby limiting M1 macrophage polarization. METHODS: Peripheral blood […]
CASK mediates methylglyoxal-induced mitochondria-associated cell death in retinal Muller cells through modulating the ROS-p38-SOCE signalling pathway and antioxidant enzymes
Biomed Pharmacother. 2026 May 8;199:119489. doi: 10.1016/j.biopha.2026.119489. Online ahead of print. ABSTRACT Diabetic retinopathy (DR), a major cause of blindness, is partly driven by methylglyoxal (MGO), a glycolytic byproduct with cytotoxic properties. Retinal Müller cells (MCs), which preserve retinal integrity and function, are highly susceptible to MGO-induced damage. Calcium/calmodulin-dependent serine protein kinase (CASK), a scaffold […]
Accessory Inner Segment-Like Structures Develop in Human Retinal Organoids
Stem Cell Rev Rep. 2026 May 9. doi: 10.1007/s12015-026-11144-2. Online ahead of print. ABSTRACT PURPOSE: A novel photoreceptor structure, called the accessory inner segment (aIS), was recently identified in human rod photoreceptors. It is described as a microtubule-based, mitochondria-rich extension of the conventional inner segment attached externally to the outer segment. Human retinal organoids recapitulate […]
The Transcription Factor 12 of Basic Helix-Loop-Helix Plays an Essential Role in Retinal Health
Invest Ophthalmol Vis Sci. 2026 May 1;67(5):13. doi: 10.1167/iovs.67.5.13. ABSTRACT PURPOSE: To study a non-redundant role of Tcf12 in retinal health. METHODS: A loss-of-function mutation in Tcf12 was identified by applying optical coherence tomography (OCT) to a forward genetic pipeline. CRISPR/Cas9-generated Tcf12ra/ra mice, expressing a replacement allele (“ra”) were used to validate the findings from […]
NLRX1 Drives Prostate Cancer Progression Through Activation of AKT and ERK Signaling Pathways
Int J Biol Sci. 2026 Apr 16;22(8):4417-4440. doi: 10.7150/ijbs.126054. eCollection 2026. ABSTRACT NLRX1, a mitochondrial NOD-like receptor (NLR) family protein, is a non-inflammasome-forming protein with diverse roles in cancer. While NLRX1 has been recognized as a tumor suppressor in colorectal and hepatocellular carcinomas, it appears to act as a tumor promoter in breast and head […]
Genetic Features and Clinical Heterogeneity of Leber Hereditary Optic Neuropathy in Adolescent and Adult Patients: A Case Series on Arab Patients
Int Med Case Rep J. 2026 Apr 30;19:571657. doi: 10.2147/IMCRJ.S571657. eCollection 2026. ABSTRACT Leber hereditary optic neuropathy (LHON) is a rare disorder characterized by painless progressive visual loss. LHON is caused by maternally inherited mitochondrial DNA (mtDNA) point mutations, impairing the electron transport chain and oxidative phosphorylation. Environmental and nuclear factors may further influence disease […]
PEDF Prevents Corneal Endothelial Dysfunction of Fuchs Endothelial Corneal Dystrophy
Invest Ophthalmol Vis Sci. 2026 May 1;67(5):2. doi: 10.1167/iovs.67.5.2. ABSTRACT PURPOSE: The purpose of this study was to explore the protection of pigment epithelium-derived factor (PEDF) on the corneal endothelium in Fuchs endothelial corneal dystrophy (FECD). METHODS: PEDF levels in aqueous humor of FECD patients were quantified by enzyme-linked immunosorbent assay. PEDF receptor expression of […]
Suboptimal Responses to Anti-VEGF in Retinal Neurovascular Diseases: Linking Aging and Alternative Angioinflammatory Pathways
Invest Ophthalmol Vis Sci. 2026 May 1;67(5):4. doi: 10.1167/iovs.67.5.4. ABSTRACT PURPOSE: Vision-threatening ocular diseases are impacted by aging-associated molecular changes, including mitochondrial dysfunction, cellular senescence, and chronic inflammation. Anti-VEGF therapies targeting VEGF-A/VEGFR2 signaling remain the frontline standard of care, but many patients exhibit suboptimal or nondurable responses, often due to compensatory and/or compromised antiangiogenic and […]