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    Review

    Genomic instability and eye diseases

    Background

    Genetic information is stored in the bases of double-stranded DNA. However, the integrity of DNA molecules is constantly threatened by various mutagenic agents, including pollutants, ultraviolet light (UV), and medications. To counteract these environmental damages, cells have established multiple mechanisms, such as producing molecules to identify and eliminate damaged DNA, as well as reconstruct the original DNA structures. Failure or insufficiency of these mechanisms can cause genetic instability. However, the role of genome stability in eye diseases is still under-researched, despite extensive study in cancer biology.

    Main text

    As the eye is directly exposed to the external environment, the genetic materials of ocular cells are constantly under threat. Some of the proteins essential for DNA damage repair, such as pRb, p53, and RAD21, are also key during the ocular disease development. In this review, we discuss five ocular diseases that are associated with genomic instability. Retinoblastoma and pterygium are linked to abnormal cell cycles. Fuchs’ corneal endothelial dystrophy and age-related macular degeneration are related to the accumulation of DNA damage caused by oxidative damage and UV. The mutation of the subunit of the cohesin complex during eye development is linked to sclerocornea.

    Conclusions

    Failure of DNA damage detection or repair leads to increased genomic instability. Deciphering the role of genomic instability in ocular diseases can lead to the development of new treatments and strategies, such as protecting vulnerable cells from risk factors or intensifying damage to unwanted cells.

    Hongyan Liu, Jun Cheng, Xiaoyun Zhuang, Benxiang Qi, Fenfen Li, Bining Zhang

    2023-11-15
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    Review

    Genetic and epigenetic regulators of retinal Müller glial cell reprogramming

    Background

    Retinal diseases characterized with irreversible loss of retinal nerve cells, such as optic atrophy and retinal degeneration, are the main causes of blindness. Current treatments for these diseases are very limited. An emerging treatment strategy is to induce the reprogramming of Müller glial cells to generate new retinal nerve cells, which could potentially restore vision.

    Main text

    Müller glial cells are the predominant glial cells in retinae and play multiple roles to maintain retinal homeostasis. In lower vertebrates, such as in zebrafish, Müller glial cells can undergo cell reprogramming to regenerate new retinal neurons in response to various damage factors, while in mammals, this ability is limited. Interestingly, with proper treatments, Müller glial cells can display the potential for regeneration of retinal neurons in mammalian retinae. Recent studies have revealed that dozens of genetic and epigenetic regulators play a vital role in inducing the reprogramming of Müller glial cells in vivo. This review summarizes these critical regulators for Müller glial cell reprogramming and highlights their differences between zebrafish and mammals.

    Conclusions

    A number of factors have been identified as the important regulators in Müller glial cell reprogramming. The early response of Müller glial cells upon acute retinal injury, such as the regulation in the exit from quiescent state, the initiation of reactive gliosis, and the re-entry of cell cycle of Müller glial cells, displays significant difference between mouse and zebrafish, which may be mediated by the diverse regulation of Notch and TGFβ (transforming growth factor-β) isoforms and different chromatin accessibility.

    Xueqi Xiao, Zhiyong Liao, Jian Zou

    2023-11-15
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    Review

    Research progress of iron metabolism in retinal diseases

    Background

    Retinal diseases can lead to severe visual impairment and even blindness, but current treatments are limited. For precise targeted therapy, the pathophysiological mechanisms of the diseases still need to be further explored. Iron serves an essential role in many biological activities and helps maintain the function and morphology of the retina. The vision problems caused by retinal diseases are affecting more and more people, the study of iron metabolism in retinal diseases possesses great potential for clinical application.

    Main text

    Iron maintains a dynamic balance in the retina but in excess is toxic to the retina. Iron overload can lead to various pathological changes in the retina through oxidative stress, inflammation, cell death, angiogenesis and other pathways. It is therefore involved in the progression of retinal diseases such as age-related macular degeneration, glaucoma, diabetic retinopathy, retinitis pigmentosa, and hereditary iron overload. In recent years, iron chelators have been shown to be effective in the treatment of retinal diseases, but the exact mechanism is not yet fully understood. This question prompted further investigation into the specific mechanisms by which iron metabolism is involved in retinal disease.

    Conclusions

    This review summarizes iron metabolism processes in the retina and mechanistic studies of iron metabolism in the progression of retinal disease. It also highlights the therapeutic potential of iron chelators in retinal diseases.

    Cunzi Li, Chunyu Xiao, Hui Tao, Xianling Tang

    2023-11-15
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    Artificial intelligence and deep learning in ophthalmology: Current status and future perspectives

    Background

    The ophthalmology field was among the first to adopt artificial intelligence (AI) in medicine. The availability of digitized ocular images and substantial data have made deep learning (DL) a popular topic.

    Main text

    At the moment, AI in ophthalmology is mostly used to improve disease diagnosis and assist decision-making aiming at ophthalmic diseases like diabetic retinopathy (DR), glaucoma, age-related macular degeneration (AMD), cataract and other anterior segment diseases. However, most of the AI systems developed to date are still in the experimental stages, with only a few having achieved clinical applications. There are a number of reasons for this phenomenon, including security, privacy, poor pervasiveness, trust and explainability concerns.

    Conclusions

    This review summarizes AI applications in ophthalmology, highlighting significant clinical considerations for adopting AI techniques and discussing the potential challenges and future directions.

    Kai Jin, Juan Ye

    2023-11-15
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Advances in Ophthalmology Practice and Research

  • Sponsor: An official journal of the Second Affiliated Hospital of Zhejiang
  • University, School of Medicine and the Zhejiang University Press.
  • Editor-in-Chief: Dr. Ke Yao, MD  |  Co-Editor-in-chief: Dr. Richard Abbott, MD 
  • ISSN: 2667-3762
  • Publication frequency: Quarterly
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Latest articles

  • 2024-12-14

  • TOC

    2024-12-14

  • Letter to the Editor

    Rekha Gyanchand, B. Mamatha, Salma Mohd Iqbal Tabani, Rajan Sharma, Ashok Sharma

    | 2024-12-14

  • Review

    摘要：BackgroundMyopia is one of the most common eye diseases globally, and has become an increasingly serious health concern among adolescents. Understanding the factors contributing to the onset of myopia and the strategies to slow its progression is critical to reducing its prevalence.Main textAnimal models are key to understanding of the etiology of human diseases. Various experimental animal models have been developed to mimic human myopia, including chickens, rhesus monkeys, marmosets, mice, tree shrews, guinea pigs and zebrafish. Studies using these animal models have provided evidences and perspectives on the regulation of eye growth and refractive development. This review summarizes the characteristics of these models, the induction methods, common indicators of myopia in animal models, and recent findings on the pathogenic mechanism of myopia.ConclusionsInvestigations using experimental animal models have provided valuable information and insights into the pathogenic mechanisms of human myopia and its treatment strategies.  

    Lingman Zheng, Zhiyong Liao, Jian Zou

    | 2024-12-14

  • Review

    摘要：BackgroundCataracts are a common eye disease and a major cause of blindness in China and worldwide. In China, the incidence of cataracts among people over 60 years old is as high as 80%. Surgery is the primary treatment for various types of cataracts, but such invasive procedures can affect corneal endothelial cells to some extent.Main textCataract surgery can damage corneal endothelial cells, leading to complications such as corneal edema in mild cases. Severe damage can result in endothelial decompensation, necessitating secondary corneal endothelial transplantation. Preoperative thorough assessment of endothelial status, intraoperative endothelial protection measures, and postoperative active use of medications to prevent further damage to endothelial cells can reduce endothelial cell loss. Factors influencing endothelial cell status include whether the patient has related systemic diseases or ocular conditions, the hardness of the nucleus, the choice of surgical incision, the method of nuclear fragmentation, the type of viscoelastic agent used, the orientation of the phacoemulsification needle bevel, the duration and energy of ultrasound use, the choice of fluid control system, the use of protective auxiliary instruments, the application of intraocular lens scaffold technology, femtosecond laser assistance, and the use of certain medications.ConclusionsActively regulating the factors affecting corneal endothelial cells to reduce damage related to cataract surgery is crucial. This paper reviews the existing literature on various factors affecting corneal endothelial cells during cataract surgery and explores future developments and research directions.  

    Chen Yang, Qi An, Han Zhou, Hongyan Ge

    | 2024-12-14

  • Review

    摘要：BackgroundPresbyopia, a common age-related condition affecting near vision, impacts over a billion people worldwide. The aim of this paper is to review the main reports and results of clinical trials, comparing the newest pharmacological treatment options for presbyopia, their mechanisms of action, and possible side effects.Main textPharmacological approaches, involving eye drops that target the underlying mechanisms of presbyopia, have gained growing interest. Two key pharmacological agents in this field are miotics and lens softeners. Miotics enhance near vision temporarily by creating a pinhole effect, though they may cause side effects and are under further investigation for long-term use with ongoing research also exploring the potential benefits of combining them with other drugs to improve outcomes and reduce adverse reactions. Lens softeners, on the other hand, aim to restore the flexibility of the lens, addressing one of the primary causes of presbyopia. Despite early trials, further development of lens softeners has been suspended. A notable advancement in this field is the recent FDA approval of 1.25% and 0.4% pilocarpine, a miotic agent, for presbyopia treatment. This milestone highlights the growing interest in pharmacological solutions for presbyopia, with several new drugs and their combinations currently being investigated for potential FDA approval.Conclusionspharmacological treatments, particularly miotics like pilocarpine, represent a promising alternative to conventional methods for managing presbyopia. Continued research into these treatments, especially combinations of drugs, may offer more effective and convenient options for presbyopia patients in the future.  

    Andrzej Grzybowski, Laura Kapitanovaite, Reda Zemaitiene

    | 2024-12-14
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