To perform a meta-analysis of single nucleotide polymorphism needs to calculate gene frequency. This paper employs allele model as an example to introduce how to calculate gene frequency and display the process of a meta-analysis of single nucleotide polymorphism data using Review Manager 5.3 software.
Epigenetic modifications such as DNA methylation, histone post-translational modifications, non-coding RNA are reversible, heritable alterations which are induced by environmental stimuli. Major risk factors of diabetes and diabetic complications including hyperglycemia, oxidative stress and advanced glycation end products, can lead to abnormal epigenetic modifications in retinal vascular endothelial cells and retinal pigment epithelium cells. Epigenetic mechanisms are involved in the pathogenesis of macular edema and neovascularization of diabetic retinopathy (DR), as well as diabetic metabolic memory. The heritable nature of epigenetic marks also playsakey role in familial diabetes mellitus. Further elucidation of epigenetic mechanisms in DR can open the way for the discovery of novel therapeutic targets to prevent DR progression.
Leber hereditary optic neuropathy is an optic neuropathy associated with mitochondrial DNA. The disease affects young men mainly, which is considered to be due to denaturation of the retinal nerve ganglion cell and axonal loss of optic nerve, leading to optic atrophy. Nowadays, there are some development in studying Leber hereditary optic neuropathy by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). It is great help to know the disease, forecast the progression of disease, and take action on intervention. In addition, there is a lack of in-depth study on OCT and OCTA characteristics among different mutation sites of LHON, different genders of the same site, different families of the same site or even different branches of the same family. It is expected to be improved in the future work.
Accurate collection and preservation of vitreous and retina-related tissue specimens is the basis for clinical diagnosis and rigorous basic research. The clinical uses of vitreous specimens include microbial culture, cytological detection, detection of degenerative diseases, PCR analysis, and cytological detection of cell morphology. The experimental research uses include DNA gene analysis, protein quantitative analysis, metabolite examination, RNA content quantitative analysis, cytokine determination and so on. Retinal specimens collecting was mainly used for PCR analysis of retinal proliferative membrane, immunohistochemical staining, immunofluorescence examination, microvascular density evaluation, cell isolation and culture, etc. Understanding the collection of vitreoretinal surgical specimens and the application of relevant detection techniques and materials can provide a more comprehensive idea for the diagnosis of vitreoretinal diseases and a broader reference for the related basic research.
Currently, coronavirus disease 2019 (COVID-19) is still widely prevalent around the world, leading to a major threat to the global public health. COVID-19 mainly involves the respiratory system, but extrapulmonary manifestations including that of the nervous system also exist in the setting of COVID-19. Misdiagnosis and delayed treatment of the disease may easily cause when ocular, especially neuro-ophthalmological symptoms are the first symptoms in early COVID-19, as the neuroophthalmological manifestations are rarely reported. First-line clinicians need to ask about not only respiratory symptoms such as fever, cough and sore throat, but also diplopia, impaired vision, eye motion pain, abnormal gait or other neurological deficits at the first reception, as these extrapulmonary manifestations are often signs of serious infection. The neuroophthalmological manifestations and possible underlying etiology of COVID-19 were summarized in this review, hoping to provide an early identification and effective treatment of COVID-19 for clinicians. More extensive studies are needed in the future to confirm the causal relationship between COVID-19 and neuroophthalmological disease to provide a sufficient basis for a comprehensive understanding of COVID-19.
Diabetic retinopathy (DR) is one of the main cause of severe visual impairment in diabetic patients. Most of the existing treatments are aimed at patients with intermediate and advanced stages of vision impairment, and are invasive treatments with limited effects. Therefore, it is urgent for non-invasive new therapies and new targets to prevent the risk of DR or delay the progress of DR. Early optimization of metabolic therapies, which are strict control of blood glucose, blood pressure and blood lipid in the early stage of diabetes, may prevent or improve potential and reversible microangiopathy, however, there is still a lack of comprehensive and effective drug targeted therapy and unified clinical application standards. Therefore, this study summarizes the application of new hypoglycemic drugs and some antihypertensive and lipid-lowering drugs in the prevention and treatment of DR in recent years, in order to provide some reference for the clinical early prevention and treatment of this disease.
The main treatment methods of macular edema (ME) are intravitreal injection of anti-vacular endothelial growth factor drugs, corticosteroids, retinal laser photocoagulation and pars plana vitrectomy (PPV). However, recurrent ME, epiretinal membrane formation and drug resistance have occurred to a part of patients, which is called refractory ME (RME). PPV with internal limiting membrane peeling (ILMP) has the potential of treating and relieving RME. PPV combined with ILMP can treat and relieve RME by removing the posterior vitreous cortex, or removing the epiretinal membrane or internal limiting membrane at the same time during surgery to relieve the traction between the vitreous body and the retina. However, due to the complex pathogenesis of ME, the therapeutic effects of PPV combined with ILMP on ME caused by different etiologies still need clinical studies to explore the best surgical methods for ME caused by different etiologies.
Central serous chorioretinopathy (CSC) is one of the representative pachychoroid spectrum disease. Although fundus fluorescein angiography and indocyanine green angiography can be used as the gold standard for the diagnosis of CSC, they are invasive examinations, which may bring certain risks in clinical application and cannot help us obtain quantitative parameters. Optical coherence tomography angiography (OCTA), as a non-invasive and quantitative examination, is an important imaging tool for understanding the pathogenesis, diagnosis and treatment of CSC. With the advancement of OCTA, the swept-source OCTA has a satisfying scanning depth, a wider scanning range and a higher resolution. The development of OCTA broadens the horizons of the pathogenesis of CSC, promotes the understanding of the pathophysiology of CSC, and sheds new light for its clinical diagnosis and treatment. Based on OCTA, the choroid and retina in eyes with CSC are presented with qualitative and quantitative changes in vascular system. OCTA-guided CSC treatment and the discovery of prognostic markers based on OCTA challenge the application of traditional imaging techniques in CSC. With the continuous improvement and progress of OCTA technology, traditional angiography combined with OCTA will bring great benefits to the diagnosis and treatment of CSC. This review summarizes the quantitative application of OCTA in the pathogenesis, diagnosis and treatment of CSC.
The lamina cribrosa (LC) is a complicated collagenous meshwork of trabeculae and laminar pores contain capillaries, nerves and neurogliocytes, which provides structural and nutrient support to the retinal ganglion cell axons as they exit the eye. The intraocular pressure causes direct damage or deformation and remodeling of LC, leads to axoplaxmic transport and blood supply disturbance. The preponderance of evidence suggests that LC is the principal site of glaucomatous damage. The development of optic coherence tomography (OCT) technology has improved the imaging quality of deep structures of the optic nerve head and makes it possible to detect LC. The quantitative research indexes of LC structure include LC depth, laminar curvature, laminar thickness, prelaminar tissue, laminar pore, laminar defect and hemodynamics. To improve the understanding of LC structure, explore the characteristics of LC and understand the biomechanical and hemodynamic pathogenesis of glaucoma, which would be contribute to the application of big data research in the diagnosis and treatment of glaucoma.
Rhegmatogenous retinal detachment (RRD), the most common type of retinal detachment, is the separation of neurosensory retina from the underlying retinal pigment epithelium. The key to surgical treatment of RRD is to find and seal all retinal breaks while the major surgical procedures include scleral buckle (SB), pars plana vitrectomy (PPV), and a combination of the two (PPV/SB). Different surgical methods have their own advantages and limitations. SB plays a very important role in certain types of RRD, providing a high rate of anatomical reduction and a good prognosis of visual function. Combined PPV is also an important auxiliary means for the treatment of complicated RRD. The rapid development of vitreoretinal surgery has greatly contributed to the trend of RRD surgery from extraocular to intraocular. However, it is worth noting that personalized RRD surgical methods are needed to be provided for different patients in order to minimize the occurrence of complications.