Uveitis is a group of inflammatory diseases affecting the uveal tract, retina, retinal blood vessels and vitreous. Due to its complex etiology, various entities, diverse and lack of constancy in treatment, some patients can experience visual impairment and even loss. In view of the fact that blindness caused by uveitis is mostly incurable and occurs usually in young and middle-aged people, it accounts for an important part of blinding eye diseases and has attracted worldwide attention. With the continuous development of precision medicine, clinicians will face new problems and challenges in disease diagnosis, and further in-depth research is needed to explore more optimized and efficient diagnostic processes and examinations to improve the diagnosis of uveitis in China.
With high morbidity, branch retinal vein occlusion (BRVO) is a common retinal vascular disease in the clinic. Although the classic characteristics of BRVO have been recognized for a long time, the traditional understanding of BRVO has been challenged along with development and application of new imaging technologies, including the reasonable classification and staging of the disease, and the vascular characteristics at the occlusive site via multimodal imaging, etc. Thus, re-summarizing and refining these features as well as further improving and optimizing traditional imaging evaluation, can not only deepen the correct acknowledge of the entity, but also find biomarkers of prognosis of visual function, which is helpful to establish better diagnosis and treatment strategy. In the meanwhile, it is necessary that clinical characteristics of BRVO on imaging and the reliability of these imaging techniques are worth correct understanding and objective assessment.
Most fundus diseases leading to irreversible blindness are associated with genetic variations. Some sequence changes directly cause retinal diseases while others lead to a higher susceptibility to environmental insults common in daily life. Studies of genes related to fundus diseases will lead to a revolutionary change in the prevention and treatment of irreversible blindness. Application of high throughput nextgeneration sequencing and exome capture techniques will greatly enhance our ability to elucidate genes responsible for fundus diseases. With such technical and analytical advances, we are likely to see continuing and accelerating progress in the genetic study of fundus diseases, particularly in those fields requiring collaborative study of common fundus diseases using large cohorts of samples. The translational clinical application of understanding about these newly identified genes responsible for fundus diseases is also increasing in promise. Thus, strengthening current genetic studies of fundus diseases in both of these areas will make a valuable contribution to the prevention and treatment of blindness in both the near and especially the distant future.
Photodynamic therapy is the first treatment confirmed to be effective in the treatment of exudative age-related macular degeneration in 2000, which had been introduced to China in the same year. The pathological new vessels were destructed by the singlet oxygen and oxygen free radical released by activated photosensitizer. In the next 12 years, it has been widely applied for the treatment of subfoveal and parafoveal choroidal neovascularization caused by all kinds of chorioretinal diseases. More than a treatment, it also help us to explore the pathogenesis of fundus disease, the capability to embolize the capillaries within the treating area let us not only understand the mechanism of central serous chorioretinopathy and polypoidal choroidal vasculopathy, but also make it a effective cure for them. However, there are still a lot of unsolved questions such as the mechanism of photodynamic therapy, the relationship with human genomic difference, and even the development of angiogenesis. Besides with the more novel medications and strategies available, we also face the appropriate application for indications, selection of combined therapy and optimization of treatment regimens. Further investigations about the photodynamic therapy and disease and their relations from both basic and clinical study will guide us the treatment in clinic and also reveal the truth of related fundus diseases deep under the surface.
The therapeutic effect of anti-vascular endothelial growth factor (VEGF) for neovascular age-related macular degeneration (nAMD) was determined by a number of factors. Comprehensive thorough analysis of clinical features, imaging results and treatment response can predict the potential efficacy and possible vision recovery for the patient, and also can optimize the treatment regime to make a personalized therapy plan. Precise medicine with data from genomics, proteomics and metabolomics study will provide more objective and accurate biology basis for individual precise treatment. The future research should focus on comprehensive assessment of factors affecting the efficacy of anti-VEGF therapy, to achieve individualized precise diagnosis and treatment, to improve the therapeutic outcome of nAMD.
Evidence-based guidelines for diagnosis and treatment of diabetic retinopathy in China (2022) is based on evidences in recent clinical trials and a system of Grading of Recommendations, Assessment, Development and Evaluation of evidence quality and strength of recommendations. The main key points around why the diabetic macular edema (DME) changes the classification, what thresholds for initiating anti-vascular endothelial growth factor (VEGF) drug therapy; eyes with center-involved DME (CI-DME) and good vision for clinical significant macular edema still treated by focal laser even with good vision, the clinical pathway for CI-DME changes first-line treatment from laser to anti-VEGF, loading dose of anti-VEGF for CI-DME in non-proliferative diabetic retinopathy (DR) from 3 injections up to 4-5 injections is recommended; severe non-proliferative DR and proliferative DR with vision impairment but without hemorrhages and retinal traction could be considered first treatment of anti-VEGF comparing to initiate pan-retinal photocoagulation (PRP) (weakly recommended), PRP is still gold-standard for progressive non-perfusion area of retina. With the rapid development of DR evaluation devices such as optical coherence tomography, wide-angle optical coherence tomography angiography and wide-angle fluorescein fundus angiography, imaging biomarkers have been provided for the degree of DR lesion, treatment response and prognosis. It is believed that the clinical practice will be promoted a new height by the 2022 edition of Chinese DR guideline.
As a new and non-invasive imaging technology, optical coherence tomography angiography (OCTA) has been using in ocular fundus diseases, glaucoma and neuro-ophthalmic disorders for more than 4 years. The most valuable and efficient application of OCTA is in detecting neovascular diseases in the macula. The big advantage of OCTA is for diagnosing all kinds of choroidal neovascularization. OCTA can observe blood flow information in different layers of the retina. To a large extent, it changes our diagnostic thinking and pathway in macular diseases. Before acquiring OCTA image, the operator should be well trained to ensure to get high quality images with good signal strength and less artifact. OCTA report should show the segmentation slab that the ophthalmologist wants to see. So far, OCTA has difficulty to reach peripheral retina with default setting. Even so, OCTA has provided much information of blood flow within retinal vascular arcade for evaluating structural and functional changes. We are expecting that the swept source OCTA could give us better observation of the choroidal blood flow. That should be the breakthrough of the new generation of OCTA.
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.
Inherited eye disease is a heterogeneous group of eye disorders caused by genetic defects, which has many genetic characteristics, such as multiple inheritance modes and numerous gene variation types. Over the past few decades, genetic testing has improved significantly, with more and more known disease-causing gene variants identified. With the rapid development of high-throughput sequencing technology, clinical diagnosis and treatment of eye genetic diseases have been accelerated, and molecular diagnosis of eye genetic diseases has become an important step in accurate diagnosis and treatment. How to correctly select and evaluate each kind of genetic testing technology, reasonably standardize the use of genetic testing technology, and provide patients with more accurate genetic counseling are problem that clinicians need to seriously consider.
Recent years have witnessed tremendous progress in vitreoretinal surgery. The treatment of vitreoretinal diseases has increased enormously and its related indications expanded widely with the contribution of the emerging novel technologies, methods, equipment and new ideas. Attaching importance to minimally invasive surgery, application of auxiliary drugs, development of improved equipment and surgical technique were the main features. Further basic and clinical research is necessary to promote innovation and development of vitreoretinal surgery in China to keep pace with and surpass advanced technology.