Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: Retinitis pigmentosa is a group of inherited retinal degenerations resulting in photoreceptor cell dysfunction, death, and eventually vision loss. It can be a manifestation of Usher syndrome and has been linked with autoimmune retinopathy and systemic autoimmune diseases.
Case Presentation: We report the case of a 70-year-old woman with retinitis pigmentosa and Usher syndrome who presented with autoimmune encephalitis. Laboratory tests revealed the presence of α-enolase antibodies in the patient's serum and cerebrospinal fluid, which cross-reacted with the human brain and retina tissues.
Conclusions: We describe autoimmune encephalitis caused by autoantibodies against sequestrated retinal antigens in retinitis pigmentosa, which can cross-react with brain tissue. This unique case demonstrates the remote effects of retinitis pigmentosa and an autoimmune pathogenetic pathway that triggered autoimmune encephalitis. Several retinal antigens sequestered into systemic circulation with outer retinal degeneration in retinitis pigmentosa can evoke an immune response and thus produce auto-antibodies that can result in autoimmune encephalitis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12341249 | PMC |
| http://dx.doi.org/10.1186/s12886-025-04302-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multi-Channel Temporal Interference Retinal Stimulation Based on Reinforcement Learning.
IEEE J Biomed Health Inform
September 2025
Retinal degenerative diseases such as age-related macular degeneration and retinitis pigmentosa cause severe vision impairment, while current electrical stimulation therapies are limited by poor spatial targeting precision. As a promising non-invasive alternative, the efficacy of temporal interference stimulation (TIS) for retinal targeting depends on optimized multi-electrode parameters. This study reconstructed a whole-head finite element model with detailed ocular structures and applied reinforcement learning (RL)-based multi-channel electrode parameter optimization to retinal stimulation.
View Article and Find Full Text PDFTargeted metabolomics reveals dysregulated tryptophan metabolism in retinitis pigmentosa.
Exp Eye Res
September 2025
Department of Ophthalmology, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease characterized by progressive retinal pigment epithelium dysfunction and photoreceptor apoptosis, yet its pathogenesis remains unclear and no cure exists. Emerging evidence implicates the role of tryptophan metabolism in neuroinflammatory processes, prompting our investigation of serum tryptophan metabolites in RP patients versus healthy controls. Through targeted metabolomic profiling and clinical characterization, including age of onset, best corrected visual acuity (BCVA) and retinal thickness, we identified significant alterations in RP patients: marked decreases in cinnabarinic acid, xanthurenic acid, quinolinic acid and indole-3-carboxaldehyde (all p < 0.
View Article and Find Full Text PDFBidirectional Hypoxic Extracellular Vesicle Signaling Between Müller Glia and Retinal Pigment Epithelium Regulates Retinal Metabolism and Barrier Function.
Biology (Basel)
August 2025
Department of Oral Biology, The Dental College of Georgia, Augusta University, Augusta, GA 30912, USA.
The retina is highly sensitive to oxygen and blood supply, and hypoxia plays a key role in retinal diseases such as diabetic retinopathy (DR) and age-related macular degeneration (AMD). Müller glial cells, which are essential for retinal homeostasis, respond to injury and hypoxia with reactive gliosis, characterized by the upregulation of the glial fibrillary acidic protein (GFAP) and vimentin, cellular hypertrophy, and extracellular matrix changes, which can impair retinal function and repair. The retinal pigment epithelium (RPE) supports photoreceptors, forms part of the blood-retinal barrier, and protects against oxidative stress; its dysfunction contributes to retinal degenerative diseases such as AMD, retinitis pigmentosa (RP), and Stargardt disease (SD).
View Article and Find Full Text PDFEvaluating the long-term efficacy of umbilical cord-derived mesenchymal stem cell therapy in retinitis pigmentosa: findings from a 1-to-4-year follow-up.
Stem Cells Transl Med
July 2025
Professor in Hematology Department and Bone Marrow Transplantation Center at Erciyes University, Kayseri 38039, Turkiye.
Background: The objective of this study was to assess the long-term effectiveness and safety of implanting mesenchymal stem cells derived from umbilical cord tissue (UC-MSC) in patients diagnosed with retinitis pigmentosa (RP).
Methods: In this single-center study with a retrospective design, 669 eyes received suprachoroidal implantation of 5 million UC-MSCs. Postoperative assessments were conducted on the first day, third month, and every 6 months thereafter.
Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.
Invest Ophthalmol Vis Sci
September 2025
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy.
Purpose: To investigate the prevalence of cystoid macular edema (CME) in relation to the disease-causing genes in a large cohort of genetically defined patients with non-syndromic retinitis pigmentosa (RP).
Methods: Spectral-domain optical coherence tomography (SD-OCT) imaging has been retrospectively reviewed in order to assess the presence of CME over the disease course in a cohort of 580 patients with a clinical and genetic diagnosis of non-syndromic RP.
Results: Over the course of the disease, 179 patients (30.