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ABSTRACT Optic neuritis is an important cause of unilateral and acute visual loss in young adults, but other differential diagnoses should be considered, especially when the disease has an atypical presentation. This report presents the case of a young woman with reduced visual acuity in her right eye, associated with optic disc edema and a relative afferent pupillary defect, that was initially misdiagnosed as optic neuritis and subsequently found to have paracentral acute middle maculopathy, possibly secondary to subtle impending central retinal vein occlusion. This case emphasizes the need to remember that retinal vascular diseases can occasionally mimic optic neuritis. Detailed anamnesis and ophthalmic examination can avoid unnecessary interventions.
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Gene therapy is designed to introduce genetic material into the cells of a patient via virus to enhance, inhibit, edit or add a genetic sequence, results in a therapeutic or prophylactic effect. Gene therapy has brought positive influence and great potential for the treatment of retinal diseases including genetic retinal diseases and acquired retinal diseases. In addition to the constant optimization of gene vectors, the exploration of different drug delivery techniques has brought different therapeutic effects for gene therapy of retinal diseases. The main delivery methods include subretinal injection, intravitreal injection, suprachoroidal injection. Considering the transfection efficiency and safety of delivery methods, emerging sub-inner limiting membrane injection and noninvasive gene delivery are under investigation. The selection of gene delivery method is very important for the safety and effectiveness of gene therapy for retinal diseases. It is not only related to the development of equipment and technology, but also related to the modification of adeno-associated virus, the selection of promoter and the specific retinal cells that the target gene wants to be transfected. Therefore, the most appropriate method of gene delivery should be selected according to the final gene therapy agent and the specific transfected cells after taking all these factors into consideration.
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Objective:To investigate the regulatory effect of transient receptor potential cation channel subfamily C member 3 (TRPC3) on the retina in oxygen-induced retinopathy (OIR) mice and biological behavior of human retinal vascular endothelial cells (HREC).Methods:A total of 32 healthy SPF grade 7-day-old C57BL/6 mice were selected and randomly divided into a control group and an OIR group by the random number table method, with 16 mice in each group.The control group received no special treatment, and the OIR model was established in the OIR group.On postnatal day 17 (PN17), the success of the model establishment was verified by immunofluorescence staining of the retinal patch.The in vitro cultured HREC were divided into a normal control group, a transfection reagent group, and a si-TRPC3 group.The normal control group received no special treatment, while the transfection reagent group and the si-TRPC3 group were transfected with transfection reagent or transfection reagent + si-TRPC3.The relative expression of TRPC3 mRNA was detected by real-time quantitative fluorescence PCR.The relative expressions of TRPC3, transcription factor NF-E2 related factor (Nrf2), and superoxide dismutase (SOD) proteins were determined by Western blot.HREC were further divided into a normal control group, a vascular endothelial growth factor (VEGF) group, a si-TRPC3 group, and a Pyr3 (TRPC3 channel inhibitor) group, which were cultured in complete medium, medium containing 20 ng/ml VEGF recombinant protein, medium containing 20 ng/ml VEGF recombinant protein (si-TRPC3 transfection for 72 hours), and medium containing 20 ng/ml VEGF recombinant protein+ 1 μmol/L Pyr3 for 48 hours, respectively.The proliferation ability of HREC was detected using cell counting kit 8 (CCK-8). The horizontal and vertical migration ability of cells were detected by cell scratch assay and transwell assay, respectively.This study followed the 3R principles of animal welfare and was approved by the Ethics Committee of Hebei Eye Hospital (No.2023LW04). Results:Pathological neovascular clusters with strong fluorescent staining appeared in the retina of OIR mice on PN17.The relative expressions of TRPC3 mRNA and protein in the retina of OIR mice were 2.057±0.244 and 1.517±0.290, respectively, significantly higher than 0.983±0.033 and 0.874±0.052 of control group ( t=6.165, 3.094; both at P<0.05). The relative expression levels of TRPC3 mRNA and protein were significantly lower, and the relative expression levels of Nrf2 and SOD proteins were higher in the si-TRPC3 group than in the normal control and transfection reagent groups, and the differences were statistically significant (all at P<0.05). The CCK-8 experiment results showed that the cell absorbance value was higher in the VEGF group than in the normal control group, and lower in the si-TRPC3 and Pyr3 groups than in the VEGF group, with statistically significant differences (all at P<0.05). The results of the cell scratch experiment showed that the lateral migration rate of VEGF group cells was higher than that of normal control group, while the lateral migration rate of si-TRPC3 group and Pyr3 group cells was lower than that of VEGF group, and the differences were statistically significant (all at P<0.05). The transwell experiment results showed that the number of stained cells in the VEGF group was higher than that in the normal control group, and the number of stained cells in the si-TRPC3 group and Pyr3 group was lower than that in the VEGF group, with statistically significant differences (all at P<0.05). Conclusions:Hypoxia induces increased TRPC3 expression in OIR mouse retina, and downregulation of TRPC3 inhibits HREC proliferation and migration.The mechanism is related to the activation of the Nrf2-related oxidative stress pathway.
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ABSTRACT A 36-year-old black male presented with a progressive loss of visual acuity in both eyes for 7 years. He had a history of tractional retinal detachment in the right eye and vitreous hemorrhage followed by retinal detachment in the left eye. He denied any systemic illness, trauma, or drug abuse. After clinical investigation, he was diagnosed with SC hemoglobinopathy and proliferative sickle cell retinopathy stage V in both eyes.
RESUMO Paciente do sexo masculino, 36 anos, negro, apresentou baixa acuidade visual progressiva em ambos os olhos por 7 anos. Possuía antecedentes de descolamento tracional de retina no olho direito e hemorragia vítrea, seguida de descolamento de retina no olho esquerdo. Negava doenças sistêmicas, trauma ou abuso de drogas. Após investigação clínica, foi diagnosticado com hemoglobinopatia S-C e retinopatia falciforme proliferativa estágio V em ambos os olhos.
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Humans , Male , Adult , Retinal Detachment/etiology , Hemoglobin SC Disease/complications , Retinal Diseases/diagnosis , Cataract/diagnosis , Vitreous Hemorrhage , Retinal Detachment/diagnosis , Visual Acuity , Slit Lamp Microscopy , Neovascularization, Pathologicالملخص
ABSTRACT A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.
RESUMO Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.
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Purpose: Hereditary causes are an important etiological category of childhood blindness. This study reports the real?world experience of a developing ocular genetic service. Methods: The study was carried out from Jan 2020 to Dec 2021 jointly by the Pediatric Genetic Clinic and the Department of Ophthalmology of a tertiary care hospital in North?West India. Children presenting to the genetic clinic with congenital or late?onset ocular disorder(s) and any individual (irrespective of age) suffering from an ophthalmic disorder and referred by an ophthalmologist for genetic counseling for himself/herself and/or his/her family member(s) were included. Genetic testing (exome sequencing/panel?based sequencing/chromosomal microarray) was outsourced to third?party laboratories with the cost of the test being borne by the patient. Results: Exactly 8.6% of the registered patients in the genetic clinic had ocular disorders. Maximum number of patients belonged to the category of anterior segment dysgenesis, followed by microphthalmia anophthalmia coloboma spectrum, lens disorders, and inherited retinal disorders in decreasing numbers. The ratio of syndromic ocular to isolated ocular disorders seen was 1.8:1. Genetic testing was accepted by 55.5% of families. The genetic testing was clinically useful for ~35% of the tested cohort, with the opportunity for prenatal diagnosis being the most useful application of genetic testing. Conclusion: Syndromic ocular disorders are seen at a higher frequency compared to isolated ocular disorders in a genetic clinic. Opportunity for prenatal diagnosis is the most useful application of genetic testing in ocular disorders.
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We describe a 68-year-old female patient with unilateral central retinal artery occlusion (CRAO) with cilioretinal artery sparing post-coronavirus disease 2019 (COVID-19) infection. The patient presented with acute vision loss in the left eye 11 days after discharge from a severe COVID-19 infection, with altered D-dimer, C-reactive protein, and fibrinogen levels. The best-corrected visual acuity (BCVA) in the left eye was 20/400; fundoscopic examination revealed diffuse pallor retina with a patent arterial branch from the optic disk to the fovea, confirmed by fluorescein angiography. CRAO with a cilioretinal artery sparing post-COVID-19 may be considered an additional ocular manifestation of the post-acute COVID-19 syndrome spectrum.
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Inherited ocular diseases comprise a heterogeneous group of rare and complex diseases, including inherited retinal diseases (IRDs) and inherited optic neuropathies. Recent success in adeno-associated virus-based gene therapy, voretigene neparvovec (Luxturna®) for RPE65-related IRDs, has heralded rapid evolution in gene therapy platform technologies and strategies, from gene augmentation to RNA editing, as well as gene agnostic approaches such as optogenetics. This review discusses the fundamentals underlying the mode of inheritance, natural history studies and clinical trial outcomes, as well as current and emerging therapies covering gene therapy strategies, cell-based therapies and bionic vision.
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Humans , Eye Diseases/therapyالملخص
Artificial Intelligence(AI)refers to computer simulation of human mental reasoning, decision making, and behavior. AI has been implemented in various medical fields. AI application has shown tremendous potentials in ophthalmology, as it relies heavily on ocular imaging and visual data. The overall potential of AI includes screening, diagnostic grading, automated detection of disease activity, recurrences, quantification of therapeutic effects, and identification of relevant targets for novel therapeutic approaches, enabling personalized health care and large-scale management. This review briefly introduces and comments the main AI applications in ophthalmology, including diabetic retinopathy, age-related macular degeneration, glaucoma, cataract, telehealth, and related topics. The review also points out the opportunities and challenges in AI implement in clinical practice, including clinical and technical challenges, data quality, explainability of the algorithm results, medicolegal and ethical issues.
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AIM: To observe the clinical features of acute macular neuroretinopathy(AMN)induced by Omicron.METHODS: A retrospective study. A total of 9 patients(18 eyes)diagnosed with AMN from December 2022 to January 2023 in the Hospital of Chengdu University of Traditional Chinese Medicine were included. Patients underwent spectral-domain optical coherence tomography(SD-OCT), fundus fluorescein angiography(FFA), fundus photography, autofluorescence(AF), infrared reflectance(IR), optical coherence tomography angiography(OCTA)and multicolor, etc. Furthermore, they were followed up for 1～3mo and observed the prognosis.RESULTS: The initial symptom of the Omicron-induced AMN was the sudden onset of central/paracentral scotoma in the eyes with or without impaired vision and metamorphopsia, and the scotoma could persist for at least 3mo. The image features of AMN are as follows. First, the SD-OCT examination showed the rupture of outer retinal layers, scattered hyperreflective lesions, and atrophy of outer retinal layers. In severe cases, hyperreflective lesions were seen in the inner nuclear layer(INL)or with microcystic cavities under the retinal pigment epithelium(RPE). Second, the OCTA examination demonstrated the decreased blood flow density of the deep capillary plexus(DCP)of the macula. Third, the IR examination showed the weak reflection of lesion areas. Fourth, the fundus photography demonstrated the localized brown wedge-shaped lesion.CONCLUSIONS: The Omicron-induced AMN is mostly found in young females, and the characteristic manifestation of fundus is damage to the outer retinal layers. The extent of fundus lesions is related to the systemic inflammatory response and ocular microcirculatory changes after infection. The multimodal fundus image examination and a history of Omicron infection are helpful to diagnose the Omicron-induced AMN.
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OBJECTIVE@#To develop a few-shot learning (FSL) approach for classifying optical coherence tomography (OCT) images in patients with inherited retinal disorders (IRDs).@*METHODS@#In this study, an FSL model based on a student-teacher learning framework was designed to classify images. 2,317 images from 189 participants were included. Of these, 1,126 images revealed IRDs, 533 were normal samples, and 658 were control samples.@*RESULTS@#The FSL model achieved a total accuracy of 0.974-0.983, total sensitivity of 0.934-0.957, total specificity of 0.984-0.990, and total F1 score of 0.935-0.957, which were superior to the total accuracy of the baseline model of 0.943-0.954, total sensitivity of 0.866-0.886, total specificity of 0.962-0.971, and total F1 score of 0.859-0.885. The performance of most subclassifications also exhibited advantages. Moreover, the FSL model had a higher area under curves (AUC) of the receiver operating characteristic (ROC) curves in most subclassifications.@*CONCLUSION@#This study demonstrates the effective use of the FSL model for the classification of OCT images from patients with IRDs, normal, and control participants with a smaller volume of data. The general principle and similar network architectures can also be applied to other retinal diseases with a low prevalence.
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Humans , Tomography, Optical Coherence , Deep Learning , Retinal Diseases/diagnostic imaging , Retina/diagnostic imaging , ROC Curveالملخص
With the continuous advancement of technology, the field of retinal surgery is poised to witness an increasing array of innovations and breakthroughs. The innovation in retinal surgery plays a pivotal role in enhancing the success rate of operations, reducing the risk of complications, and improving patient prognosis and quality of life. This encompasses innovations in vitrectomy systems, the novel application of vitrectomy in treating other ocular diseases, advancements in retinal surgical techniques, technological and conceptual innovations, as well as multidisciplinary collaboration, all of which contribute to the ongoing development in the treatment of retinal diseases. Therefore, innovations in retinal surgery should receive significant attention from ophthalmologists specializing in retinal diseases with the best service to patients.
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Objective:To evaluate the changes of retinal thickness, choroid thickness and choroid vascular polypoid lesions (polyps) before and after the treatment of conbercept in polypoidal choroidal vasculopathy (PCV) with conbercept based on enhanced-depth imaging optical coherence tomography (EDI-OCT) and OCT angiography (OCTA).Methods:Twenty patients with PCV admitted to the ophthalmology department of the Affiliated Hospital of Traditional Chinese Medicine of Xinjiang Medical University from January 2019 to December 2020 (who had not received intravitreous injection before) were selected and given intravitreous injection of conbercept with 3+ pro re nata (PRN) treatment. The changes of visual acuity, intraocular pressure, central macular thickness (CMT), subfoveal choroidal thickness (SFCT), peripapillary choroid thickness (PCT), polyps height, and maximum cross-sectional area of polyps were observed before and after treatment.Results:There were significant difference in the best corrected visual acuity (BCVA), CMT, SFCT, PCT, polyps height and maximum polyps cross-sectional area before and after treatment in 20 patients (all P<0.05). BCVA was significantly improved at 1 week and 1 month after treatment (all P<0.05), and still improved at 6 months after treatment, but the difference was not statistically significant compared with 3 months after treatment ( P>0.05), and slightly fluctuated at 6 to 12 months after treatment, but basically stable. CMT, SFCT and PCT decreased significantly after 3 months of treatment, and were basically stable from 6 to 12 months after treatment. One month after treatment, polyps height was (251.30±57.49)μm, with a decrease of 11.3 μm; the polyps height decreased at 3, 6 and 12 months after treatment, and the difference was statistically significant (all P<0.05). The maximum cross-sectional area of polyps at 3 and 12 months after treatment was (2.10±0.44)μm 2 and (1.98±0.44)μm 2, respectively, with a certain degree of decrease, and the difference was statistically significant (all P<0.05). Conclusions:Intraocular injection of conbercept can effectively reduce CMT, SFCT, PCT, polyps height, maximum cross-sectional area of polyps and increase BCVA in PCV patients 3 months after treatment. EDI-OCT and OCTA were used to quantitatively detect the changes of PCV indexes and observe the curative effect and prognosis.
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Structure of maternal retina and choroid would change reversibly with the changes in metabolism, hormone levels, and the hemodynamic state during pregnancy. However, high myopia could further aggravate the impact on the ocular lesions of pregnant women. This article describes the clinical characteristics of pregnant women with high myopia, summarizes the potential risk factors affecting adverse outcomes of high myopia during pregnancy, and reviews the current comprehensive obstetric and ophthalmic management strategies to guide the clinical practice.
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Acute coronary syndromes (ACS) are clinical syndromes caused by the instability or rupture of coronary atheromatous plaques. The development and treatment of ACS are closely related to some ocular manifestations. Hypertensive retinopathy, retinal arteriovenous occlusion, diabetes retinopathy, and age-related macular degeneration are associated with a high risk of ACS. Retinal vascular occlusion may be a potential postoperative complication of the percutaneous coronary intervention for ACS. Ocular parameters such as the retinal vascular diameter and density, the blood flow velocity of the ophthalmic artery, and the choroidal thickness are expected to be markers for assessing or predicting the risk of ACS, which are of important value for the prevention of cardiovascular events such as ACS.
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Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Genetic diagnosis has become one essential method for patients with IRD in their clinical management. So far, about 30% of the patients with IRD cannot get molecular diagnosis (no pathogenic variant detected or only mono-allele variant identified in AR genes) using target or whole exome sequencing. Most missing heritability or variants for these patients were variants located in no-coding regions (deep intron or promoter regions) and structure variants of the known IRD genes. It is more challenge to reveal this kind of missing variants, which need using whole genome sequencing combined with other cellular or molecular assays.
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Inherited retinal diseases (IRDs) are the major cause of refractory blinding eye diseases, and gene replacement therapy has already made preliminary progress in the treatment of IRDs. For IRDs that cannot be treated by gene replacement therapy, gene editing provides an alternative therapeutic method. Strategies like disruption of pathogenic variants with or without gene augmentation therapy and precise repair of pathogenic variants can be applied for IRDs with various inheritance patterns and pathogenic variants. In animal models of retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, cone rod cell dystrophy, and other disorders, CRISPR/Cas9, base editing, and prime editing showed the potential to edit pathogenic variations in vivo, indicating a promising future for gene editing therapy of IRDs.
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Several mutant genes for inherited retinal diseases have been identified, but effective treatments are still lacking.The clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) system can edit human genomic DNA by nonhomologous end joining or homology-directed repair, offering more possibilities for the treatment of hereditary retinal diseases.CRISPR/Cas9 not only can genetically correct patient-derived induced pluripotent stem cells (iPSCs) to observe their differentiation into retinal cells thereby, thereby exploring the pathogenesis of the disease and implementing cell therapy, but can also be delivered to the body via vectors and directly act on target cells to achieve in vivo gene editing.CRISPR/Cas9 gene editing technology in hereditary retinal diseases has been mainly used in retinitis pigmentosa, hereditary X-linked juvenile retinoschisis, and Leber congenital amaurosis 10, of which the in vitro application of CRISPR/Cas9 for Leber congenital amaurosis 10 has entered the clinical trial stage.In this paper, we reviewed the mechanism and key advances of CRISPR/Cas9 and provided an overview of gene editing in IRDs.
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RESUMO Objetivo Avaliar os mapeamentos de retina realizados em interconsultas oftalmológicas, analisando as prevalências de alterações encontradas e comparando-as com o motivo da interconsulta. Métodos Estudo transversal, com dados encontrados durante exame de mapeamento de retina de pacientes internados ou em atendimento no pronto-socorro. Os dados analisados de cada paciente foram idade, sexo, especialidade médica solicitante, motivo da interconsulta e achados do exame fundoscópico. Resultados Foram avaliados 104 pacientes, com prevalência de alterações ao exame em 43,27%. Os motivos mais frequentes de solicitação de avaliação oftalmológica foram trauma (16,35%) e alterações neurológicas (15,38%). O achado com maior prevalência foi o edema de papila, presente em 17,3% das avaliações gerais. Outros achados muito prevalentes foram as retinopatias diabética e hipertensiva, ambas com 11,53% na avaliação geral, mas com 83,3% e 53,84% de prevalência nos pacientes cujos motivos da consulta foram diabetes mellitus descompensada e crise hipertensiva, respectivamente. Conclusão O edema de papila e as retinopatias diabética e hipertensiva foram as alterações mais prevalentes, o que demonstra a importância do atendimento multidisciplinar sempre que possível, com maior atenção aos pacientes hipertensos e diabéticos.
ABSTRACT Objective To evaluate the indirect ophthalmoscopy performed in ophthalmologic consultations, analyzing the prevalence of the study and comparing them with the reason for the consultation. Methods Cross-sectional study, with data found during the indirect ophthalmoscopy exam of inpatients or in emergency room care. The data analyzed for each patient was sex, the requested medical age, the reason for the consultation and the funduscopic examination findings. Results One hundred and four patients were evaluated and 43.27% of patients with a prevalence of changes in the exam. The most requested reasons for requesting ophthalmologic evaluation were trauma (16.35%) and neurological alterations (15.38%). The most prevalent finding was papillary edema, representing 17.3% of the general estimates. Other very prevalent findings were diabetic and hypertensive retinopathies, both with 11.53% in the general assessment, but with 83.3% and 53.84% prevalence in patients whose reasons for consultation were decompensated DM and hypertensive crisis, respectively. Conclusions Papillary edema and diabetic and hypertensive retinopathies were the most prevalent alterations, which demonstrates the importance of multidisciplinary care whenever possible, with greater attention to hypertensive and diabetic patients.