Sex differences on laser-induced choroidal neovascularization and short-chain fatty acid treatment in a mouse model
J Neuroinflammation. 2025 Jul 19;22(1):188. doi: 10.1186/s12974-025-03508-1. ABSTRACT Age-related macular degeneration (AMD) is a leading cause of blindness worldwide, with a clinical presentation that varies between sexes. In late-stage AMD, choroidal neovascularization (CNV) triggers retinal inflammation and degeneration, processes that are exacerbated by an overactive response of retinal microglial cells. Short-chain fatty acids (SCFAs) have […]
NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency
BMJ Case Rep. 2025 Jul 18;18(7):e266155. doi: 10.1136/bcr-2025-266155. ABSTRACT Mutations in the NDUFV1 gene, encoding a subunit of mitochondrial complex I, are typically associated with severe neurological disorders such as Leigh syndrome. We report a pre-teen girl with progressive bilateral optic atrophy and steady visual deterioration, without neurological findings or systemic involvement. Neuroimaging was unremarkable […]
MITF promotes MFN2-dependent mitochondrial fusion to protect retinal pigment epithelial cells from mitochondrial damage
Free Radic Biol Med. 2025 Jul 16:S0891-5849(25)00840-8. doi: 10.1016/j.freeradbiomed.2025.07.025. Online ahead of print. ABSTRACT There is growing indication that protecting the retinal pigment epithelium (RPE) against mitochondrial damage is crucial for preventing RPE cell dysfunction and retinal degeneration. However, the molecular mechanisms remain largely unknown. Here, we show that microphthalmia-associated transcription factor (MITF), a potent […]
Heterochronic parabiosis uncovers AdipoR1 as a critical player in retinal rejuvenation
Sci Adv. 2025 Jul 18;11(29):eadv6642. doi: 10.1126/sciadv.adv6642. Epub 2025 Jul 16. ABSTRACT Aging induces substantial structural and functional decline in the retina, yet the molecular drivers of this process remain elusive. In this study, we used heterochronic parabiosis (HP) combined with single-cell RNA sequencing to generate comprehensive transcriptomic profiles of murine retinas from young, aged, […]
Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child
Oman J Ophthalmol. 2025 Jun 24;18(2):208-211. doi: 10.4103/ojo.ojo_247_24. eCollection 2025 May-Aug. ABSTRACT Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme ornithine aminotransferase resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents […]
Predictors of Final Visual Outcome in Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy
Invest Ophthalmol Vis Sci. 2025 Jul 1;66(9):42. doi: 10.1167/iovs.66.9.42. ABSTRACT PURPOSE: This exploratory analysis aimed to identify predictive factors of final best-corrected visual acuity (BCVA) in patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A mutation who received lenadogene nolparvovec gene therapy. METHODS: The following covariates were individually evaluated as possible factors associated with […]
C5a-Induced Autophagy Dysfunction Promotes Choroidal Neovascularization Through the ROS-Inflammatory Pathway
Invest Ophthalmol Vis Sci. 2025 Jul 1;66(9):44. doi: 10.1167/iovs.66.9.44. ABSTRACT PURPOSE: Age-related macular degeneration (AMD) is the leading cause of blindness in aging populations. C5a is the primary component of drusen and exerts a pivotal role in AMD, facilitating its progression. In the present research, we explored how C5a exacerbates AMD pathogenesis and its interplay […]
CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy
Int J Mol Sci. 2025 Jul 2;26(13):6364. doi: 10.3390/ijms26136364. ABSTRACT Dominant Optic Atrophy (DOA) is the most common inherited optic neuropathy and presents as gradual visual loss caused by the loss of retinal ganglion cells (RGCs). Over 60% of DOA cases are caused by pathogenic variants in the OPA1 gene, which encodes a mitochondrial GTPase […]
Age-Related Macular Degeneration: Cellular and Molecular Signaling Mechanisms
Int J Mol Sci. 2025 Jun 26;26(13):6174. doi: 10.3390/ijms26136174. ABSTRACT Age-related macular degeneration (AMD) is a progressive retinal disorder and a leading cause of irreversible blindness among elderly individuals, impacting millions of people globally. This review synthesizes the current understanding of the cellular and molecular signaling mechanisms driving AMD, with a focus on the distinct […]
Mitochondrial Fragmentation and Long Noncoding RNA MALAT1 in Diabetic Retinopathy
Int J Mol Sci. 2025 Jul 3;26(13):6429. doi: 10.3390/ijms26136429. ABSTRACT Mitochondria are dynamic in nature and depending on the energy demand they fuse and divide. This fusion-fission process is impaired in diabetic retinopathy and the promoter DNA of Mfn2, a fusion gene, is hypermethylated and its expression is downregulated. Long noncoding RNAs (RNAs with >200 […]