Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23.588
Filtrar
1.
Methods Mol Biol ; 2848: 151-167, 2025.
Artigo em Inglês | MEDLINE | ID: mdl-39240522

RESUMO

High-quality imaging of the retina is crucial to the diagnosis and monitoring of disease, as well as for evaluating the success of therapeutics in human patients and in preclinical animal models. Here, we describe the basic principles and methods for in vivo retinal imaging in rodents, including fundus imaging, fluorescein angiography, optical coherence tomography, fundus autofluorescence, and infrared imaging. After providing a concise overview of each method and detailing the retinal diseases and conditions that can be visualized through them, we will proceed to discuss the advantages and disadvantages of each approach. These protocols will facilitate the acquisition of optimal images for subsequent quantification and analysis. Additionally, a brief explanation will be given regarding the potential results and the clinical significance of the detected abnormalities.


Assuntos
Modelos Animais de Doenças , Angiofluoresceinografia , Retina , Doenças Retinianas , Tomografia de Coerência Óptica , Animais , Tomografia de Coerência Óptica/métodos , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/patologia , Doenças Retinianas/diagnóstico , Retina/diagnóstico por imagem , Retina/patologia , Angiofluoresceinografia/métodos , Camundongos , Ratos , Roedores , Imagem Óptica/métodos , Humanos , Fundo de Olho
2.
Klin Monbl Augenheilkd ; 241(9): 1023-1031, 2024 Sep.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-39284358

RESUMO

Artificial intelligence (AI) has already found its way into ophthalmology, with the first approved algorithms that can be used in clinical routine. Retinal diseases in particular are proving to be an important area of application for AI, as they are the main cause of blindness and the number of patients suffering from retinal diseases is constantly increasing. At the same time, regular imaging using high-resolution modalities in a standardised and reproducible manner generates immense amounts of data that can hardly be processed by human experts. In addition, ophthalmology is constantly experiencing new developments and breakthroughs that require a re-evaluation of patient management in routine clinical practice. AI is able to analyse these volumes of data efficiently and objectively and also provide new insights into disease progression and therapeutic mechanisms by identifying relevant biomarkers. AI can make a significant contribution to screening, classification and prognosis of various retinal diseases and can ultimately be a clinical decision support system, that significantly reduces the burden on both everyday clinical practice and the healthcare system, by making more efficient use of costly and time-consuming resources.


Assuntos
Inteligência Artificial , Doenças Retinianas , Humanos , Doenças Retinianas/diagnóstico , Doenças Retinianas/terapia , Algoritmos
3.
Int J Nanomedicine ; 19: 9273-9289, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39282576

RESUMO

Subretinal injection (SR injection) is a commonly used method of ocular drug delivery and has been mainly applied for the treatment of neovascular age-associated macular degeneration (nAMD) and sub-macular hemorrhage (SMH) caused by nAMD, as well as various types of hereditary retinopathies (IRD) such as Stargardt's disease (STGD), retinitis pigmentosa (RP), and a series of fundus diseases such as Leber's congenital dark haze (LCA), choroidal defects, etc. The commonly used carriers of SR injection are mainly divided into viral and non-viral vectors. Leber's congenital amaurosis (LCA), choroidal agenesis, and a series of other fundus diseases are also commonly treated using SR injection. The commonly used vectors for SR injection are divided into two categories: viral vectors and non-viral vectors. Viral vectors are a traditional class of SR injection drug carriers that have been extensively studied in clinical treatment, but they still have many limitations that cannot be ignored, such as poor reproduction efficiency, small loading genes, and triggering of immune reactions. With the rapid development of nanotechnology in the treatment of ocular diseases, nanovectors have become a research hotspot in the field of non-viral vectors. Nanocarriers have numerous attractive properties such as low immunogenicity, robust loading capacity, stable structure, and easy modification. These valuable features imply greater safety, improved therapeutic efficacy, longer duration, and more flexible indications. In recent years, there has been a growing interest in nanocarriers, which has led to significant advancements in the treatment of ocular diseases. Nanocarriers have not only successfully addressed clinical problems that viral vectors have failed to overcome but have also introduced new therapeutic possibilities for certain classical disease types. Nanocarriers offer undeniable advantages over viral vectors. This review discusses the advantages of subretinal (SR) injection, the current status of research, and the research hotspots of gene therapy with viral vectors. It focuses on the latest progress of nanocarriers in SR injection and enumerates the limitations and future perspectives of nanocarriers in the treatment of fundus lesions. Furthermore, this review also covers the research progress of nanocarriers in the field of subretinal injection and highlights the value of nanocarrier-mediated SR injection in the treatment of fundus disorders. Overall, it provides a theoretical basis for the application of nanocarriers in SR injection.


Assuntos
Portadores de Fármacos , Humanos , Animais , Portadores de Fármacos/química , Injeções Intraoculares , Retina , Doenças Retinianas/terapia , Doenças Retinianas/tratamento farmacológico , Nanopartículas/química , Sistemas de Liberação de Medicamentos/métodos , Vetores Genéticos/administração & dosagem , Vetores Genéticos/genética , Degeneração Macular/terapia
4.
Retina ; 44(10): 1732-1740, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39287535

RESUMO

PURPOSE: This study evaluates a large language model, Generative Pre-trained Transformer 4 with vision, for diagnosing vitreoretinal diseases in real-world ophthalmology settings. METHODS: A retrospective cross-sectional study at Bascom Palmer Eye Clinic, analyzing patient data from January 2010 to March 2023, assesses Generative Pre-trained Transformer 4 with vision's performance on retinal image analysis and International Classification of Diseases 10th revision coding across 2 patient groups: simpler cases (Group A) and complex cases (Group B) requiring more in-depth analysis. Diagnostic accuracy was assessed through open-ended questions and multiple-choice questions independently verified by three retina specialists. RESULTS: In 256 eyes from 143 patients, Generative Pre-trained Transformer 4-V demonstrated a 13.7% accuracy for open-ended questions and 31.3% for multiple-choice questions, with International Classification of Diseases 10th revision code accuracies at 5.5% and 31.3%, respectively. Accurately diagnosed posterior vitreous detachment, nonexudative age-related macular degeneration, and retinal detachment. International Classification of Diseases 10th revision coding was most accurate for nonexudative age-related macular degeneration, central retinal vein occlusion, and macular hole in OEQs, and for posterior vitreous detachment, nonexudative age-related macular degeneration, and retinal detachment in multiple-choice questions. No significant difference in diagnostic or coding accuracy was found in Groups A and B. CONCLUSION: Generative Pre-trained Transformer 4 with vision has potential in clinical care and record keeping, particularly with standardized questions. Its effectiveness in open-ended scenarios is limited, indicating a significant limitation in providing complex medical advice.


Assuntos
Inteligência Artificial , Doenças Retinianas , Humanos , Estudos Transversais , Estudos Retrospectivos , Feminino , Masculino , Doenças Retinianas/diagnóstico , Pessoa de Meia-Idade , Idoso , Retina/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos
5.
Retina ; 44(10): 1828-1835, 2024 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-39287547

RESUMO

PURPOSE: Antiretroviral therapy has revolutionized HIV treatment with didanosine (DDI) as a pioneering drug. However, DDI has been associated with retinal toxicity, characterized by peripheral chorioretinal degeneration with macular sparing. Despite its clinical recognition, the prevalence and risk factors for didanosine-induced retinopathy are not well described. METHODS: This retrospective case series analyzed 127 DDI-treated patients at Weill Cornell Medicine Department of Ophthalmology. Inclusion criteria included at least 6 months of DDI use and available ultra-widefield imaging. Patients were categorized as affected or unaffected based on retinal imaging assessed by two reviewers. The affected group was further divided into "probable" or "possible" retinopathy. Patient demographics, DDI usage characteristics, and imaging findings were analyzed with statistical comparisons drawn between affected and unaffected cohorts. RESULTS: Of the 127 patients, 9 (7%) showed signs of didanosine-induced retinal toxicity. On average, the affected group was older compared with the unaffected group (65.1 vs. 56.5 years, P = 0.025), with lower BMI (23.2 vs. 27.4, P = 0.04), and older at the start of the treatment (51.6 vs. 40.8 years, P = 0.026). Mild phenotypes with peripheral pigmentary changes were also identified using ultra-widefield imaging. CONCLUSION: This pioneering academic study highlighted a notable prevalence of DDI-induced retinal toxicity. Statistical analysis demonstrated age, BMI, and age at treatment initiation as potential risk factors. Ultra-widefield autofluorescence emerged as a valuable tool in detecting and delineating findings. Follow-up studies are needed to determine the necessity of regular screening for individuals on or with a history of didanosine use.


Assuntos
Fármacos Anti-HIV , Didanosina , Infecções por HIV , Doenças Retinianas , Humanos , Didanosina/efeitos adversos , Estudos Retrospectivos , Masculino , Feminino , Pessoa de Meia-Idade , Prevalência , Idoso , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Fármacos Anti-HIV/efeitos adversos , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Adulto , Fatores de Risco , Centros Médicos Acadêmicos , Retina/efeitos dos fármacos , Retina/diagnóstico por imagem , Retina/patologia , Angiofluoresceinografia/métodos , Tomografia de Coerência Óptica/métodos
6.
Med Image Anal ; 98: 103311, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39217674

RESUMO

Optical Coherence Tomography Angiography (OCTA) is a crucial tool in the clinical screening of retinal diseases, allowing for accurate 3D imaging of blood vessels through non-invasive scanning. However, the hardware-based approach for acquiring OCTA images presents challenges due to the need for specialized sensors and expensive devices. In this paper, we introduce a novel method called TransPro, which can translate the readily available 3D Optical Coherence Tomography (OCT) images into 3D OCTA images without requiring any additional hardware modifications. Our TransPro method is primarily driven by two novel ideas that have been overlooked by prior work. The first idea is derived from a critical observation that the OCTA projection map is generated by averaging pixel values from its corresponding B-scans along the Z-axis. Hence, we introduce a hybrid architecture incorporating a 3D adversarial generative network and a novel Heuristic Contextual Guidance (HCG) module, which effectively maintains the consistency of the generated OCTA images between 3D volumes and projection maps. The second idea is to improve the vessel quality in the translated OCTA projection maps. As a result, we propose a novel Vessel Promoted Guidance (VPG) module to enhance the attention of network on retinal vessels. Experimental results on two datasets demonstrate that our TransPro outperforms state-of-the-art approaches, with relative improvements around 11.4% in MAE, 2.7% in PSNR, 2% in SSIM, 40% in VDE, and 9.1% in VDC compared to the baseline method. The code is available at: https://github.com/ustlsh/TransPro.


Assuntos
Imageamento Tridimensional , Vasos Retinianos , Tomografia de Coerência Óptica , Tomografia de Coerência Óptica/métodos , Humanos , Vasos Retinianos/diagnóstico por imagem , Imageamento Tridimensional/métodos , Heurística , Doenças Retinianas/diagnóstico por imagem , Algoritmos , Angiografia/métodos
7.
Vestn Oftalmol ; 140(4): 5-10, 2024.
Artigo em Russo | MEDLINE | ID: mdl-39254384

RESUMO

PURPOSE: This study was performed to assess the prevalence of the vascularized foveal zone, including macular-foveal capillaries (MFC) and congenital retinal macrovessels (CRM), and to analyze the structural characteristics of the macular area in patients with MFC. MATERIAL AND METHODS: The first phase of the study evaluated the prevalence of MFC and CRM. Optical coherence tomography angiography (OCT-A) was performed, and OCT-A images of the foveal avascular zone were analyzed. In the second phase, two groups were formed: the MFC group (12 eyes, 9 patients, mean age 43.8±10.7 years) and the control group (18 eyes, 17 patients, mean age 43.0±11.8 years). A comparative analysis was performed assessing central retinal thickness (CRT), thickness of retinal nerve fiber layer (RNFL), ganglion cell layer (GCL), inner plexiform layer (IPL), inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL), and foveal pit depth. RESULTS: MFCs were detected in 45 eyes from a total sample of 1031 eyes of 536 patients. The presence of CRM was recorded in three eyes of three patients. RNFL thickness was significantly higher in the MFC group in the inferior parafoveal sector (26.50 [26.00; 29.50] and 24.50 [21.75; 26.50] µm; p=0.022) and in the foveal zone (15.50 [14.00; 16.00] and 12.00 [11.00; 14.00] µm; p=0.017). Additionally, patients with MFC had a higher thickness of GCL and IPL in the fovea, inferior, nasal, and temporal parafoveal sectors. The depth of the foveal pit was significantly lower in the MFC group compared to the control group (83.0 [77.4; 101.6] and 128.0 [107.5; 147.05] µm; p=0.001). CONCLUSION: The prevalence of MFC was 4.36% (calculated per number of eyes), while the prevalence of CRM - 0.29%. The macular area in patients with MFC had increased thickness of the inner retinal layers and decreased depth of the foveal pit, suggesting potential disruption in the natural process of ganglion cell migration and apoptosis during embryogenesis.


Assuntos
Fóvea Central , Vasos Retinianos , Tomografia de Coerência Óptica , Humanos , Fóvea Central/irrigação sanguínea , Fóvea Central/diagnóstico por imagem , Adulto , Feminino , Masculino , Tomografia de Coerência Óptica/métodos , Prevalência , Pessoa de Meia-Idade , Vasos Retinianos/diagnóstico por imagem , Capilares/diagnóstico por imagem , Capilares/patologia , Doenças Retinianas/epidemiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Federação Russa/epidemiologia , Acuidade Visual , Angiofluoresceinografia/métodos
8.
Invest Ophthalmol Vis Sci ; 65(11): 11, 2024 Sep 03.
Artigo em Inglês | MEDLINE | ID: mdl-39240551

RESUMO

Purpose: To investigate the intraocular concentration profiles of stem cell factor (SCF)/c-KIT, galectin-1 (GAL-1), and vascular endothelial growth factor (VEGF)-A with regard to retinal disease and treatment response. Methods: The study group included 13 patients with dry age-related macular degeneration (AMD), 196 with neovascular AMD (nAMD), 21 with diabetic macular edema (DME), 10 with retinal vein occlusion (RVO), and 34 normal subjects with cataracts. Aqueous humor levels of SCF, c-KIT, GAL-1, and VEGF-A were analyzed by immunoassay according to disease group and treatment response. Results: Increased aqueous levels of SCF, c-KIT, and GAL-1 were observed in eyes with nAMD (2.67 ± 3.66, 296.84 ± 359.56, and 3945.61 ± 5976.2 pg/mL, respectively), DME (1.64 ± 0.89, 238.80 ± 265.54, and 3701.23 ± 4340.54 pg/mL, respectively), and RVO (4.62 ± 8.76, 509.63 ± 647.58, and 9079.60 ± 11909.20 pg/mL, respectively) compared with controls (1.13 ± 0.24, 60.00 ± 0.00, and 613.27 ± 1595.12 pg/mL, respectively). In the eyes of nAMD, the levels of all three cytokines correlated positively with VEGF-A levels. After intravitreal injections of anti-VEGF agents, the levels of GAL-1 and VEGF-A decreased significantly, whereas those of SCF and c-Kit showed no significant change. Eyes of nAMD patients with improved vision after treatment had significantly lower levels of c-KIT, GAL-1, and VEGF-A at baseline. Conclusions: The intraocular levels of cytokines were significantly elevated in eyes with nAMD, DME, and RVO compared to the controls and they showed different response to anti-VEGF treatment. With this result and their known association with angiogenesis, these cytokines may be potential therapeutic targets for future research.


Assuntos
Galectina 1 , Proteínas Proto-Oncogênicas c-kit , Fator de Células-Tronco , Fator A de Crescimento do Endotélio Vascular , Humanos , Galectina 1/metabolismo , Fator de Células-Tronco/metabolismo , Masculino , Idoso , Feminino , Proteínas Proto-Oncogênicas c-kit/metabolismo , Fator A de Crescimento do Endotélio Vascular/metabolismo , Pessoa de Meia-Idade , Humor Aquoso/metabolismo , Idoso de 80 Anos ou mais , Doenças Retinianas/metabolismo , Doenças Retinianas/tratamento farmacológico , Edema Macular/metabolismo , Edema Macular/tratamento farmacológico , Oclusão da Veia Retiniana/metabolismo , Oclusão da Veia Retiniana/tratamento farmacológico , Retinopatia Diabética/metabolismo , Retinopatia Diabética/tratamento farmacológico , Inibidores da Angiogênese/uso terapêutico , Degeneração Macular/metabolismo , Degeneração Macular/tratamento farmacológico , Injeções Intravítreas
9.
PLoS One ; 19(9): e0306473, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39240905

RESUMO

BACKGROUND: To describe Purtscher's and Purtscher-like retinopathy clinical features, etiologies, management options, and visual outcomes. METHODS: Our protocol was registered on PROSPERO [registration number: CRD42023406843]. Seven online databases were searched: PubMed, Scopus, Medline, ScienceDirect, CENTRAL, clinicaltrials.gov, and Google Scholar. Original articles were included if they reported at least one subject diagnosed with Purtscher's or Purtscher-like retinopathy. The primary outcome is to describe the clinical features of Purtscher and Purtscher-like retinopathies, including etiologies, results of related investigations, management lines, and visual outcomes. All analyses were conducted with the use of Statistical Package for Social Sciences (SPSS) version 27 (IBM SPSS Corp, SPSS Statistics ver. 26, USA) and Cochrane's RevMan software. The methodological quality of included studies was assessed using the NIH quality assessment tools. RESULTS: A total of 114 articles were included, describing 168 cases of Purtscher's and Purtscher-like retinopathy. Patients were evenly distributed between males (50.89%) and females (49.11%). Average age of patients was 34.62 years old. Trauma was the leading cause of retinopathy, being reported in 39.88% of our patients, followed by systemic lupus erythematosus (SLE) (13.1%) and acute pancreatitis (11.9%). Bilateral symptoms were reported in 57.7% of patients with centrally blurred vision being the most complained symptom (OS: 34.32% and OD: 18%). 75% of patients elicited bilateral retinal findings. Cotton-wool spots were of highest prevalence (58%). Purtscher flecken was seen in 53% of patients. Macular edema was seen in 13% of patients. Overall, patients had a favorable prognosis (53%). CONCLUSION: Purtscher's and Purtscher-like retinopathies are rare sight-threatening retinopathies that develop most commonly following trauma or other systemic diseases as SLE and acute pancreatitis. Little data is available regarding these conditions, and available data is of low quality. Patients develop bilateral disease in approximately 50% of cases, and several retinal findings are observed, with no specific tendency. Most observed signs are cotton-wool spots in around 55% of patients and Purtscher flecken in 51% of patients. Patients spontaneously recovered, although data is not conclusive. No clear prognostic value of etiological factors is identified, and further research is required in this regard.


Assuntos
Doenças Retinianas , Humanos , Doenças Retinianas/terapia , Doenças Retinianas/etiologia , Masculino , Feminino , Adulto
10.
Int J Mol Sci ; 25(17)2024 Aug 28.
Artigo em Inglês | MEDLINE | ID: mdl-39273264

RESUMO

The incorporation of gold nanoparticles (GNPs) into retinal imaging signifies a notable advancement in ophthalmology, offering improved accuracy in diagnosis and patient outcomes. This review explores the synthesis and unique properties of GNPs, highlighting their adjustable surface plasmon resonance, biocompatibility, and excellent optical absorption and scattering abilities. These features make GNPs advantageous contrast agents, enhancing the precision and quality of various imaging modalities, including photoacoustic imaging, optical coherence tomography, and fluorescence imaging. This paper analyzes the unique properties and corresponding mechanisms based on the morphological features of GNPs, highlighting the potential of GNPs in retinal disease diagnosis and management. Given the limitations currently encountered in clinical applications of GNPs, the approaches and strategies to overcome these limitations are also discussed. These findings suggest that the properties and efficacy of GNPs have innovative applications in retinal disease imaging.


Assuntos
Ouro , Nanopartículas Metálicas , Imagem Óptica , Retina , Tomografia de Coerência Óptica , Ouro/química , Nanopartículas Metálicas/química , Humanos , Imagem Óptica/métodos , Retina/diagnóstico por imagem , Retina/metabolismo , Tomografia de Coerência Óptica/métodos , Doenças Retinianas/diagnóstico por imagem , Doenças Retinianas/diagnóstico , Animais , Imagem Molecular/métodos , Meios de Contraste/química
11.
Int Ophthalmol ; 44(1): 370, 2024 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-39237823

RESUMO

PURPOSE: To assess structural (optical coherence tomography, fundus autofluorescence) and functional (contrast sensitivity and visual field) test results which were used for detecting early retinal changes in patients using oral hydroxychloroquine. METHODS: Patients using oral hydroxychloroquine for at least one year were divided into two groups according to the duration of drug use. Groups 1 and 2 consisted of patients with drug use for more than 5 years and 1-5 years, respectively. The drug-using groups were compared with the control group. The mean retinal nerve fiber layer (RNFL), central macular thickness (CMT), ganglion cell-inner plexiform layer (GC-IPL), static 10-2 visual field, fundus autofluorescence (FAF) imaging, and contrast sensitivity tests were performed and statistically compared between groups. RESULTS: Median and temporal quadrant RNFL thicknesses were found to be statistically significantly lower in the drug groups. In the drug groups, the GC-IPL sectoral and mean thicknesses were found to be statistically lower in all quadrants. Central macular thickness was also found to be similar in all three groups. There was no significant difference between the groups in visual field parameters. Macular FAF images were significantly higher in the drug users, but there was no significant difference between the three groups in foveal FAF images. Contrast sensitivity measurements were significantly lower in the drug groups than in the control group at all spatial frequencies except 6 and 18 cycles/degree. CONCLUSIONS: The combined use of structural and functional tests in patients using hydroxychloroquine provides useful information in detecting early retinal changes.


Assuntos
Antirreumáticos , Sensibilidades de Contraste , Diagnóstico Precoce , Angiofluoresceinografia , Hidroxicloroquina , Macula Lutea , Doenças Retinianas , Células Ganglionares da Retina , Tomografia de Coerência Óptica , Campos Visuais , Humanos , Hidroxicloroquina/efeitos adversos , Tomografia de Coerência Óptica/métodos , Feminino , Masculino , Campos Visuais/fisiologia , Campos Visuais/efeitos dos fármacos , Pessoa de Meia-Idade , Antirreumáticos/efeitos adversos , Doenças Retinianas/induzido quimicamente , Doenças Retinianas/diagnóstico , Macula Lutea/efeitos dos fármacos , Macula Lutea/patologia , Macula Lutea/diagnóstico por imagem , Células Ganglionares da Retina/patologia , Células Ganglionares da Retina/efeitos dos fármacos , Sensibilidades de Contraste/fisiologia , Sensibilidades de Contraste/efeitos dos fármacos , Angiofluoresceinografia/métodos , Adulto , Fibras Nervosas/patologia , Fibras Nervosas/efeitos dos fármacos , Acuidade Visual , Testes de Campo Visual/métodos , Idoso
12.
JAMA Ophthalmol ; 142(9): 874-878, 2024 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-39145965

RESUMO

Importance: Previous studies have identified familial exudative vitreoretinonpathy (FEVR) in patients with CTNNB1 syndrome based on severe congenital ocular phenotypes. However, ophthalmoscopy may not be sufficient to detect vision-threatening vitreoretinopathy in all patients. Objective: To report a consecutive retrospective case series of 11 patients with CTNNB1 variants who had previously unremarkable ophthalmoscopic examination results and to describe their detailed ophthalmic phenotypes. Design, Setting, and Participants: This retrospective case series was conducted at the Children's Hospital of Philadelphia from October 2022 to November 2023 among patients with identified variants in CTNNB1 and previously documented normal results in office retinal examinations. These consecutive patients subsequently underwent an examination under anesthesia with fluorescein angiography. Detailed genotype information was analyzed for all patients, and each variant was mapped on the CTNNB1 gene to observe any associations with severity of vitreoretinopathy. Main Outcomes and Measures: Number of patients with vitreoretinopathy and number requiring treatment for vitreoretinopathy. Results: The mean (SD) age at the time of CTNNB1 syndrome diagnosis was 2 (1) years, and the mean (SD) age at examination was 6 (3) years for the 11 total patients. A total of 9 patients had a diagnosis of strabismus, and 5 patients had undergone strabismus surgery. FEVR was present in 5 of 11 patients and in 9 eyes. The presence of disease requiring treatment was identified in 6 eyes, including 1 retinal detachment. Detailed genotype analysis of the patients found no clearly delineated high-risk loci in CTNNB1 in association with high severity of FEVR. Conclusions and Relevance: In this case series study, nearly all patients with CTNNB1 syndrome required ophthalmic care for refractive error and strabismus, and a subset also required treatment for FEVR. These findings support consideration of ultra-widefield fluorescein angiography among individuals with CTNNB1 syndrome when feasible, including the use of sedation if such an assessment is not possible in the office setting.


Assuntos
Vitreorretinopatias Exsudativas Familiares , Angiofluoresceinografia , beta Catenina , Humanos , beta Catenina/genética , Masculino , Estudos Retrospectivos , Feminino , Pré-Escolar , Criança , Vitreorretinopatias Exsudativas Familiares/diagnóstico , Angiofluoresceinografia/métodos , Lactente , Oftalmoscopia , Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/diagnóstico , Doenças Retinianas/genética , Doenças Retinianas/diagnóstico , Fenótipo , Acuidade Visual/fisiologia , Mutação
13.
JCI Insight ; 9(16)2024 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-39171529

RESUMO

Patient-specific induced pluripotent stem cell-derived (iPSC-derived) cell lines allow for therapies to be tailored to individual patients, increasing therapeutic precision and efficiency. Bietti crystalline dystrophy (BCD) is a rare blinding disease estimated to affect about 67,000 individuals worldwide. Here, we used iPSC-derived retinal pigment epithelium (iRPE) cells from patients with BCD to evaluate adeno-associated virus-mediated (AAV-mediated) gene augmentation therapy strategies. We found that BCD iRPE cells were vulnerable to blue light-induced oxidative stress and that cellular phenotype can be quantified using 3 robust biomarkers: reactive oxygen species (ROS), 4-hydroxy 2-nonenal (4-HNE) levels, and cell death rate. Additionally, we demonstrated that AAV-mediated gene therapy can significantly reduce light-induced cell death in BCD iRPE cells. This is the first proof-of-concept study to our knowledge to show that AAV-CYP4V2 gene therapy can be used to treat light-induced RPE damage in BCD. Furthermore, we observed significant variability in cellular phenotypes among iRPE from patients with BCD of divergent mutations, which outlined genotype-phenotype correlations in BCD patient-specific cell disease models. Our results reveal that patient-specific iRPE cells retained personalized responses to AAV-mediated gene therapy. Therefore, this approach can advance BCD therapy and set a precedent for precision medicine in other diseases, emphasizing the necessity for personalization in healthcare to accommodate individual diversity.


Assuntos
Distrofias Hereditárias da Córnea , Dependovirus , Terapia Genética , Células-Tronco Pluripotentes Induzidas , Medicina de Precisão , Epitélio Pigmentado da Retina , Humanos , Medicina de Precisão/métodos , Terapia Genética/métodos , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Distrofias Hereditárias da Córnea/terapia , Distrofias Hereditárias da Córnea/genética , Distrofias Hereditárias da Córnea/metabolismo , Distrofias Hereditárias da Córnea/patologia , Dependovirus/genética , Estresse Oxidativo/genética , Família 4 do Citocromo P450/genética , Família 4 do Citocromo P450/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Doenças Retinianas/terapia , Doenças Retinianas/genética , Doenças Retinianas/patologia , Aldeídos/metabolismo , Masculino
16.
Front Immunol ; 15: 1395609, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39091490

RESUMO

Systemic lupus erythematosus (SLE) is an autoimmune disease that affects multiple organs and systems. Ocular involvement is estimated to manifest in one-third of individuals with SLE, of which lupus retinopathy and choroidopathy represent the severe subtype accompanied by vision impairment. Advancements in multimodal ophthalmic imaging have allowed ophthalmologists to reveal subclinical microvascular and structural changes in fundus of patients with SLE without ocular manifestations. Both ocular manifestations and subclinical fundus damage have been shown to correlate with SLE disease activity and, in some patients, even precede other systemic injuries as the first presentation of SLE. Moreover, ocular fundus might serve as a window into the state of systemic vasculitis in patients with SLE. Given the similarities of the anatomy, physiological and pathological processes shared among ocular fundus, and other vital organ damage in SLE, such as kidney and brain, it is assumed that ocular fundus involvement has implications in the diagnosis and evaluation of other systemic impairments. Therefore, evaluating the fundus characteristics of patients with SLE not only contributes to the early diagnosis and intervention of potential vision damage, but also holds considerate significance for the evaluation of SLE vasculitis state and prediction of other systemic injuries.


Assuntos
Fundo de Olho , Lúpus Eritematoso Sistêmico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/diagnóstico , Doenças Retinianas/etiologia , Doenças Retinianas/diagnóstico , Doenças Retinianas/patologia , Doenças da Coroide/etiologia , Doenças da Coroide/diagnóstico
17.
Stud Health Technol Inform ; 316: 1664-1668, 2024 Aug 22.
Artigo em Inglês | MEDLINE | ID: mdl-39176530

RESUMO

In ophthalmology, Optical Coherence Tomography (OCT) has become a daily used tool in the diagnostics and therapeutic planning of various diseases. Publicly available datasets play a crucial role in advancing research by providing access to diverse imaging data for algorithm development. The accessibility, data format, annotations, and metadata are not consistent across OCT datasets, making it challenging to efficiently use the available resources. This article provides a comprehensive analysis of different OCT datasets, with particular attention to dataset properties, disease representation, accessibility, and aims to create a catalog of all publicly available OCT datasets. The goal is to improve accessibility to OCT data, increase openness about the availability, and give important new perspectives on the state of OCT imaging resources. Our findings reveal the need for improved data-sharing practices and standardized documentation.


Assuntos
Tomografia de Coerência Óptica , Humanos , Doenças Retinianas/diagnóstico por imagem , Bases de Dados Factuais , Retina/diagnóstico por imagem , Disseminação de Informação
19.
Exp Eye Res ; 246: 110021, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39117136

RESUMO

Retinal injury may be exacerbated by iron overload. Astragaloside IV (AS-IV) has potential applications in the food and healthcare industry to promote eye health. We sought to determine the mechanisms responsible for the protective effects of AS-IV on photoreceptor and retinal pigment epithelium cell death induced by iron overload. We conducted in vitro and in vivo experiments involving AS-IV pretreatment. We tested AS-IV for its ability to protect iron-overload mice from retinal injury. In particular, we analyzed the effects of AS-IV on iron overload-induced ferroptosis in 661W and ARPE-19 cells. AS-IV not only attenuated iron deposition and retinal injury in iron-overload mice but also effectively reduced iron overload-induced ferroptotic cell death in 661W and ARPE-19 cells. AS-IV effectively prevented ferroptosis by inhibiting iron accumulation and lipid peroxidation. In addition, inhibiting nuclear factor erythroid 2-related factor 2 (Nrf2) eliminated the protective effect of AS-IV against ferroptosis. The results suggest that ferroptosis might be a significant cause of retinal cell death associated with iron overload. AS-IV provides protection from iron overload-induced ferroptosis, partly by activating the Nrf2 signaling pathway.


Assuntos
Ferroptose , Sobrecarga de Ferro , Camundongos Endogâmicos C57BL , Epitélio Pigmentado da Retina , Saponinas , Triterpenos , Ferroptose/efeitos dos fármacos , Animais , Triterpenos/farmacologia , Triterpenos/uso terapêutico , Saponinas/farmacologia , Sobrecarga de Ferro/metabolismo , Sobrecarga de Ferro/tratamento farmacológico , Camundongos , Epitélio Pigmentado da Retina/efeitos dos fármacos , Epitélio Pigmentado da Retina/metabolismo , Epitélio Pigmentado da Retina/patologia , Modelos Animais de Doenças , Peroxidação de Lipídeos/efeitos dos fármacos , Humanos , Doenças Retinianas/prevenção & controle , Doenças Retinianas/metabolismo , Doenças Retinianas/patologia , Doenças Retinianas/tratamento farmacológico , Fator 2 Relacionado a NF-E2/metabolismo , Western Blotting , Masculino , Ferro/metabolismo
20.
BMC Ophthalmol ; 24(1): 339, 2024 Aug 12.
Artigo em Inglês | MEDLINE | ID: mdl-39135029

RESUMO

PURPOSE: To determine the importance of optical coherence tomography (OCT) in patients scheduled for cataract surgery who present with no pathologies in biomicroscopic fundus examination. DESIGN: Retrospective study. METHODS: In this study, the routine ophthalmologic examination of patients who were recommended cataract surgery was performed.Occult retinal pathologies were evaluated using OCT in patients without any pathologies in biomicroscopic fundus examination.According to whether retinal pathologies were detected on OCT, the patients were divided into two groups: normal and abnormal OCT.The findings of patients with retinal pathologies on OCT and their distribution according to age were also evaluated. RESULTS: A total of 271 eyes from 271 patients were evaluated.The number of patients with retinal pathologies on OCT despite normal fundoscopic examination findings was 38(14.0%).Of these patients,15(39.4%) had an epiretinal membrane,10(26.3%) had age-related macular degeneration, eight(21%) had vitreomacular traction, two(5.2%) had a lamellar hole, and 1(2.6%) patient each had a full-thickness macular hole, an intraretinal cyst, and photoreceptor layer damage.The age distribution of the patients with retinal pathologies was as follows: two patients,<60 years; six patients,60-70 years;14 patients,70-80 years; and 16 patients,>80 years.The rate of patients aged > 70 years and above was 78.9%.There was no statistically significant difference between the normal and abnormal OCT groups in terms of age, gender, the presence of systemic diseases, visual acuity, central macular thickness, and cataract type or density(p > 0.05 for all). CONCLUSION: In one of seven patients evaluated, retinal pathologies were detected on OCT despite normal fundoscopic examination findings.OCT can be used to detect occult retinal pathologies that cannot be detected by biomicroscopic fundus examination before cataract surgery.


Assuntos
Extração de Catarata , Doenças Retinianas , Tomografia de Coerência Óptica , Humanos , Tomografia de Coerência Óptica/métodos , Estudos Retrospectivos , Idoso , Pessoa de Meia-Idade , Masculino , Feminino , Idoso de 80 Anos ou mais , Doenças Retinianas/diagnóstico , Doenças Retinianas/diagnóstico por imagem , Adulto , Acuidade Visual , Catarata/diagnóstico , Catarata/complicações , Catarata/diagnóstico por imagem , Cuidados Pré-Operatórios/métodos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...