In recent years, with the deepening of understanding of children's retinal diseases and the continuous updating of treatment techniques, the efficacy of children's retinal diseases has also been improved. Due to the particularity of the anatomical structure of the retina of children in the growth and development stage and the pathogenesis, clinical manifestations and outcomes of children's retinal diseases are different from those of adults, the principles of treatment of adult retinal diseases cannot be directly applied to children's retinal diseases. Cryotherapy, laser photocoagulation, intravitreal injection of anti-VEGF drugs, and vitreoretinal surgery are the main treatment methods for children's retinal diseases. However, there are still many problems in the selection of indications, equipment parameters, and treatment of complications. The treatment norms of the disease need to be further improved. Therefore, research on the treatment of children's retinal diseases, and the establishment of surgical standards and norms through expert consensus and other methods are helpful for the treatment of children's retinal diseases.
Fundus photograph, angiography, optical coherence tomography, ultrasonography and other image technology and visual electrophysiology can provide a wealth of information for the diagnosis and treatment of pediatric retinal diseases. However, it put forward higher requirements on pediatric retinal imaging equipment and techniques which will be quite different from adult, because of pediatric retinal disease has its own characteristics, such as disease spectrum, pathogenesis, and pathophysiology. The principles and methods of image results interpretation on adult were not quite ready for children. It is necessary to further study the fundus imaging techniques suitable for children, gradually establish standardized examination procedures and clinical interpretation system, to promote the diagnosis of retinopathy in children.
Retinopathy of prematurity (ROP) is one of the leading causes of visual impairment in children. As understanding on the pathogenesis of ROP accumulated, anti-vascular endothelial growth factor (VEGF) drugs and their application have changed the treatment mode. Anti-VEGF therapy, with convenient operation and clear efficacy, has become an important treatment method for ROP. However, due to the dysfunction of organs in children with ROP, anti-VEGF drugs can enter blood circulation after intravitreal injection and then lead to temporarily reduction of the VEGF level in the blood, which may theoretically cause adverse effects on the development of all organs (especially the brain) in children with ROP. Therefore, it's necessary to pay attention to the effect of anti-VEGF drugs on neurodevelopment in children with ROP, strictly grasp the indications, and standardize its clinical application, so as to continuously improve the overall prognosis of ROP.
ObjectiveTo understand research hotspots and future development trends in the field of familial exudative vitreoretinopathy (FEVR) from 2014 to 2023. MethodsRelevant literature on FEVR was retrieved using the Web of Science Core Collection (SSCI and SCI-Expanded) from the Institute for Scientific Information. The bibliometric analysis software CiteSpace 6.2.R3 was used to analyze countries or regions, institutions, authors, co-cited references, and keywords. ResultsA total of 316 FEVR-related articles were included. The annual number of publications in this field showed a fluctuating upward trend from 2014 to 2023, with the highest number of publications in 2022, 51 papers (16.14%, 51/316); and the lowest in 2015, 15 papers (4.75%, 15/316). China had the highest number of publications, with 137 papers (43.35%, 137/316). Among institutions, Shanghai Jiao Tong University ranked first with 43 papers, while Professor Zhao Peiquan from Xinhua Hospital of Shanghai Jiao Tong University, had the highest number of publications among authors, with 34 papers. The country with the highest betweenness centrality was the United States, 0.91; the institution was the Chinese Academy of Medical Sciences, 0.16; and the author was Ding Xiaoyan, 0.12. The 316 papers were clustered into four research areas: #0 clinical characteristics, #1 ndp, #2 norrie disease, and #3 retinopathy of prematurity. Keywords such as "Chinese patients," "TSPAN12," "variants," and "spectrum" remained highly frequent up to 2023. ConclusionsThe number of publications on FEVR research from 2014 to 2023 show a growth trend, with Chinese research institutions and scholars contributing the most. Research on pathogenic genotypes and clinical phenotypes remains a crucial direction for future development.
In recent years, with the rapid development of gene editing technologies, research on the application of the clustered regularly interspaced short palindromic repeats (CRISPR) system in inherited retinal diseases (IRD) has become increasingly in-depth. Many IRD, such as retinitis pigmentosa, Leber congenital amaurosis, and Stargardt disease, are characterized by clearly defined pathogenic gene mutations, making them ideal targets for gene therapy. Owing to its high efficiency, strong specificity, and programmability, CRISPR technology offers a novel approach for the precise treatment of these conditions. This review summarizes recent progress in the application of CRISPR in IRD therapy, with a focus on target gene selection, optimization of editing tools and delivery systems, in vitro and in vivo validation, and early clinical investigations. In addition, current challenges, including off target effects, immune responses, and limitations in editing and delivery efficiency, are discussed. With continuous improvements in editing platforms and delivery strategies, CRISPR holds great promise for personalized treatment of IRD and may further accelerate the clinical application of precision medicine in ophthalmology.