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Retinitis pigmentosa (RP) is a genetically heterogeneous group of inherited retinal disorders involving the progressive dysfunction of photoreceptors and the retinal pigment epithelium, for which there is currently no treatment. The rd6 mouse is a natural model of autosomal recessive retinal degeneration. Given the known contributions of oxidative stress caused by reactive oxygen species (ROS) and selective inhibition of potent ROS peroxynitrite and OH·by H gas we have previously demonstrated, we hypothesized that ingestion of H water may delay the progression of photoreceptor death in rd6 mice. H mice showed significantly higher retinal thickness as compared to controls on optical coherence tomography. Histopathological and morphometric analyses revealed higher thickness of the outer nuclear layer for H mice than controls, as well as higher counts of opsin red/green-positive cells. RNA sequencing (RNA-seq) analysis of differentially expressed genes in the H group versus control group revealed 1996 genes with significantly different expressions. Gene and pathway ontology analysis showed substantial upregulation of genes responsible for phototransduction in H mice. Our results show that drinking water high in H (1.2-1.6 ppm) had neuroprotective effects and inhibited photoreceptor death in mice, and suggest the potential of H for the treatment of RP.
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http://dx.doi.org/10.1038/s41598-022-17903-8 | DOI Listing |
Retin Cases Brief Rep
October 2024
Eye Clinic, Humanitas-Gradenigo Hospital, Torino, Italy.
Purpose: To study the efficacy and safety of pro re nata regimen of brolucizumab, without loading dose, in treatment-naive patients with neovascular age-related macular degeneration (nAMD).
Case Series: Retrospective, observational study. We included all consecutive patients diagnosed with treatment- naïve nAMD undergoing Brolucizumab in Humanitas eye clinic, Turin, Italy between April 2022 and May 2023.
BMC Mol Cell Biol
September 2025
School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
Retinitis pigmentosa (RP) affects around 1 in 4000 individuals and represents approximately 25% of cases of vision loss in adults, through death of retinal rod and cone photoreceptor cells. It remains a largely untreatable disease, and research is needed to identify potential targets for therapy. Mutations in 94 different genes have been identified as causing RP, including AGBL5 which encodes the main deglutamylase that regulates and maintains functional levels of cilia tubulin glutamylation, which is essential to initiate ciliogenesis, maintain cilia stability and motility.
View Article and Find Full Text PDFRetina
September 2025
Retina Division, Stein Eye Institute, University of California of Los Angeles, Los Angeles, California.
Purpose: To describe the clinical and multimodal imaging features of a novel form of macular neovascularization (MNV), designated Type 4 MNV, defined by mixed Type 1 and Type 2 neovascularization (NV), extensive intraretinal anastomotic NV, and central posterior hyaloid fibrosis (CPHF).
Methods: This multicenter retrospective observational case series included patients with neovascular age-related macular degeneration (AMD) exhibiting both Type 1 and 2 MNV and an overlying anastomotic intraretinal NV network. This was confirmed with OCT and OCT angiography (OCTA).
Cereb Cortex
August 2025
Nencki Institute of Experimental Biology, PAS, 3 Pasteur Street, 02-093 Warsaw, Poland.
In the visual cortices, receptive fields (RFs) are arranged in a gradient from small sizes in the center of the visual field to the largest sizes at the periphery. Using functional magnetic resonance imaging (fMRI) mapping of population RFs, we investigated RF adaptation in V1, V2, and V3 in patients after long-term photoreceptor degeneration affecting the central (Stargardt disease [STGD]) and peripheral (Retinitis Pigmentosa [RP]) regions of the retina. In controls, we temporarily limited the visual field to the central 10° to model peripheral loss.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2025
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202.
Retinal ganglion cells (RGCs) are highly compartmentalized neurons whose long axons serve as the sole connection between the eye and the brain. In both injury and disease, RGC degeneration occurs in a similarly compartmentalized manner, with distinct molecular and cellular responses in the axonal and somatodendritic regions. The goal of this study was to establish a microfluidic-based platform to investigate RGC compartmentalization in both health and disease states.
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