Frontiers in ophthalmology最新文献

Retinitis Pigmentosa (RP) refers to a group of inherited retinal disease, often leading to legal and sometimes complete blindness. It is estimated that over a million people are afflicted with RP all over the world and show tremendous genetic and phenotypic heterogeneity, involving over 90 genes in its causation. The present literature review intends to present a qualitative overview of the genetic mechanisms, clinical features, and diagnostic methods of RP, emphasizing genotype-phenotype correlation. Therapeutic advances in gene therapy, stem cell therapies, optogenetics, retinal prosthetics, and pharmacotherapy are reviewed, and the article notes the crucial role that next-generation sequencing has had in facilitating accurate diagnoses and tailored treatment strategies. While no curative treatments have been proposed, emerging therapeutic strategies are claimed to be effective in blunting disease advancement and maintaining or restoring visual function. Patients who are afflicted with RP often undergo a variety of both physical and mental difficulties, hence requiring several eventual, timely interventions for their social-emotional conflicts. This review aims to present insightful information about the paradigm shift in RP diagnosis and treatment, serving as a complete basis for clinicians and researchers working toward the management of retinal diseases.

Mycobacterium tuberculosis (Mtb) can infect the retinal pigment epithelium (RPE) cells. Current in vitro research models for ocular tuberculosis (OTB) only rely on RPE cell culture approaches. Until now it remains unclear why only a minority of patients with active systemic tuberculosis (TB) develops concurrent OTB. There is significant variation in the clinical manifestations of OTB, which is potentially influenced by ethnic differences and diversity in mycobacterial strains. To better understand the immunopathobiology of OTB, particularly an individual's susceptibility to Mtb-infection and the specific host response, cell culture systems utilizing induced pluripotent stem cells (iPSC)-derived RPE cells offer a promising in vitro model to better mimic the disease. With this technology, RPE cells can be generated from specific patients of interest, enabling to test hypotheses in a bench to bedside or reverse manner. In this current study, we explore the utility of iPSC-derived RPE cells as an in vitro model for OTB. Such an approach would overcome drawbacks associated with the currently commonly used "general" RPE cell lines as disease model. The application of iPSC-derived RPE cells offers promising options for the identification of novel biomarkers and to study individualized drug screening methods for host-directed therapy of OTB, in order to restore and maintain vision in OTB patients with sight-threatening disease.

We report a case of thyroid eye disease (TED) reactivation, review the literature, and raise awareness of severe ophthalmopathy and myositis following the initiation of cancer treatment with an immune checkpoint inhibitor (ICI). In this case, after starting nivolumab, a 68-year-old woman with a past medical history of stage 2C uterine carcinoma status post-hysterectomy and past ocular history of thyroid eye disease developed ophthalmoplegia, proptosis, decreased color vision, optic disc hemorrhage, and ocular inflammation. Halting nivolumab and starting 2 weeks of intravenous steroids, one dose of teprotumumab, and low-dose orbital radiation resulted in an improvement in her orbitopathy. ICIs have become popular in oncologic treatment regimens, but they can have serious adverse effects including thyroiditis, Hashimoto's hypothyroidism, or Graves' disease complicated by TED. Multiple cases have been reported in the literature of both the reactivation of TED and the presentation of a TED-like orbital inflammation, which we summarize here. Awareness of orbital inflammation due to ICI use is critical, and ICIs should be used with caution in patients with a history of thyroid disease due to the risk of TED reactivation.

Introduction: Diabetic retinopathy (DR) is a leading cause of vision loss and is primarily driven by chronic hyperglycemia, which induces retinal vascular damage through mechanisms involving vascular endothelial growth factor (VEGF) and the renin-angiotensin system (RAS). This study investigated the effects of hyperglycemia and different insulin formulations-regular, glulisine, and aspart-on VEGF-A and angiotensinogen (AGT) gene expression in two human retinal cell types: retinal pigment epithelial (RPE) cells and human retinal microvascular endothelial cells (HRECs).

Methods: Cells were cultured from donor tissue and exposed to physiologic and hyperglycemic glucose concentrations, with or without insulin treatment. Gene expression levels were quantified using real-time PCR.

Results: Hyperglycemia significantly upregulated VEGF-A and AGT in both RPE and HREC cells (e.g., VEGF-A in RPE: 2.62-fold, P = 0.001; AGT in RPE: 3.32-fold, P = 0.093), supporting a role for both osmotic and glucose-specific pathways. Among insulin treatments, regular insulin significantly reduced VEGF-A expression in both RPE (0.72-fold, P = 0.033) and HRECs (0.57-fold, P = 0.009). In contrast, aspart and glulisine had modest effects on VEGF-A in HRECs (0.82-fold each; P = 0.035 and P = 0.060, respectively) and no significant impact in RPE cells. Regarding AGT, aspart insulin showed the most consistent suppressive effect, reducing expression in both RPE (0.15-fold, P < 0.001) and HRECs (0.22-fold, P = 0.004). Glulisine significantly increased AGT in RPE (1.56-fold, P = 0.009) but reduced it in HRECs (0.58-fold, P = 0.074). Regular insulin showed no effect on AGT in RPE (P = 0.680) and a non-significant increase in HRECs (1.36-fold, P = 0.097).

Discussion: These findings highlight the differential biological effects of insulin analogues and suggest that aspart insulin, in particular, may offer therapeutic benefits beyond glycemic control by modulating both VEGF-A and RAS-related pathways. Tailored insulin therapies could represent innovative strategies for managing or slowing the progression of diabetic retinopathy.

Objective: To quantitatively evaluate the degree of fibrosis in Idiopathic Orbital Inflammatory Pseudotumor (IOIP) using Intravoxel Incoherent Motion Diffusion-Weighted Imaging (IVIM-DWI).

Methods: Twenty eight patients (32 eyes) with idiopathic orbital inflammatory pseudotumor were pathologically diagnosed in the Affiliated Hospital of Yunnan University from August 2019 to August 2024. Routine orbital MRI plain scan and ivim-dwi scan were completed before surgery, and the true diffusion coefficient (d), pseudo diffusion coefficient (d*) and perfusion fraction (f) were obtained. According to the proportion of chronic inflammatory cells and fibrous tissue components in postoperative histopathological sections, it was defined that fibrous cells accounted for less than 10% of the total number of cells as negative (-), and > 10% as positive (+), of which 10%%25% were +, 25%%50% were + +, 50%%75% were + + +, and > 75% were + + +. Taking the proportion of fibrocytes in histopathological sections as the standard of fibrosis degree, the correlation between ivim-dwi parameters and the proportion of fibrocytes in pathological sections was analyzed. Data were analyzed by SPSS 19.0 statistical software package, and P < 0.05 was considered statistically significant.

Results: Among 28 cases (32 eyes) with idiopathic orbital inflammatory pseudotumor, there was no statistical difference between gender, age and the degree of IOIP fibrosis (P > 0.05). There was a statistically significant difference between the proportion of IOIP fiber composition and the D value and F value in IVIM-DWI parameters (P < 0.05), and the sensitivity of F value was higher than D value in the comparison of the two parameters combined with ROC curve analysis; There was no statistical difference between the D * value and the degree of fibrosis (P > 0.05).

Conclusion: The D value and F value of IVIM-DWI showed a correlation with the proportion of IOIP fiber components, and the sensitivity of F value was higher than D value. Ivim-dwi examination parameters can be used as quantitative and objective indicators to evaluate the degree of fibrosis of lesions before IOIP.

Background: Vision is rarely appraised either acutely or during recovery, following acute ischemic stroke. Our previous study found significant deficits in visual function after 2 to 3 days in ~68% of hospitalized mild-to-moderate acute ischemic stroke (AIS) patients with no comorbid eye disease. The purpose of this study was to evaluate recovery in vision after 2-6 months in a subgroup of the original participants.

Methods: Visual assessments were performed within the first week of admission and 2-6 months later. Testing was achieved on an iPad and included visual acuity (VA), VA-in-noise, visual field, visual neglect, and time to complete an eye-hand coordination (EHC) task. All cases were radiologically confirmed, and 10 had left hemisphere lesions. The outcomes were compared to 20 age-matched healthy controls who were tested and retested over a similar duration using the same vision tests. The testing took 12 min.

Results: During the first week of admission, 19/20 (95%) AIS patients returned normal visual acuity (>6/12 VA, p = 0.11), yet 11/20 (55%) had reduced VA-in-noise (p < 0.000).Visual neglect was present in 2/20 cases. Visual field defects were present in 16/20 (80%, p < 0.001), with 7/16 (44%) being unaware of their visual field loss. All of the patients chose to use their dominant right hand despite 10 having left hemisphere lesions and 13/20 (65%, p < 0.001) returning longer times to complete the EHC tracing tasks. After 2-6 months of recovery, all stroke patients returned normal visual attention, although 3/20 (15%) continued to show reduced VA in the presence of noise masks. Seven out of 20 (35%) retained visual field defects, and 8/20 (40%, three right and five left hemisphere lesions) had visuomotor impairment. Posterior circulation territory strokes and left hemisphere lesions were more likely to result in a persistent visual field loss and visuomotor deficit.

Conclusion: Given that stroke is the leading cause of neurological disability affecting over 110 million people, our findings highlight the necessity for both acute and longitudinal vision assessments subsequent to mild stroke. Exposing the persistent limitations in visual functions could aid in identifying suitability for driving and the visuomotor rehabilitation of stroke survivors.

Clinical trial registration: https://www.ANZCTR.org.au/ACTRN12618001111268.aspx, identifier ACTRN12618001111268.

Orbital schwannomas are benign tumors that arise from Schwann cells in the peripheral nerves in the orbit. They typically present after the second decade of life given their slow growth and rarely before then. Diagnosis is based on clinical course and specific imaging modalities; however, the definitive diagnosis is by lesion biopsy. Surgical removal is typically curative. Herein we present the case of an 8-year-old boy with proptosis and diplopia where he exhibited the clinical findings of an orbital mass, however, the characteristic picture of orbital schwannoma was observed on imaging yet found within the inferior rectus muscle, a rare finding indeed.

Periorbital necrotizing fasciitis (NF) is a rare, vision-threatening soft tissue infection that requires rapid antimicrobial treatments to minimize devastating soft tissue destruction, and debridement of affected tissue results in extensive defects requiring various techniques of reconstruction. We herein describe a case of a 58-year-old male with periorbital NF who underwent eyelid repair with intact fish skin grafts. To our knowledge, this is the first case report of fish skin grafts being used in eyelid wound management after periorbital NF.