CSNB是一组高度异质的遗传性视网膜疾病(inherited retinal disease, IRD)，主要由视网膜光感受器细胞和双极细胞间的信号传导障碍引发。其主要临床特征为静止性夜盲和暗适应功能障碍，常伴有早发性近视、眼球震颤、斜视和远视等症状，ERG在CSNB的诊断、分型及治疗指导中起着至关重要的作用。尽管CSNB发病率低，属于罕见病，但其真实发病率可能被低估，部分原因在于其症状轻微、眼底表现多不明显，且临床常忽视视网膜功能检查，导致较高的漏诊和误诊率。随着分子遗传学技术的进步，大量研究揭示了CSNB不同基因缺陷的致病机制，特别是与早发近视的关联机制，这些研究同也增加了对视网膜信号传导和近视发病机制的理解。然而，CSNB的基因治疗仍处于早期阶段。本综述旨在全面探讨CSNB的疾病谱，包括不同类型患者的临床表现、影像学和功能学表型特征，以及相关遗传学致病机制，并总结基因型与表型的关联。同时，综述最新研究成果与未来发展方向，旨在提高国内学者对CSNB的认识，为临床诊断和治疗提供参考，并为后续研究提供新思路。

Congenital Stationary Night Blindness (CSNB) represents a group of highly heterogeneous inherited retinal diseases (IRDs) primarily caused by impaired signal transmission between photoreceptor cells and bipolar cells in the retina. The main clinical features include stationary night blindness and dark adaptation dysfunction, often accompanied by early-onset myopia, nystagmus, strabismus, and hyperopia. Electroretinography (ERG) plays a crucial role in the diagnosis, classification, and therapeutic management of CSNB. Although CSNB is classified as a rare disease due to its low incidence, its true prevalence is likely underestimated, partly because of its mild symptoms, inconspicuous fundus manifestations, and frequent oversight of retinal function tests in clinical practice, leading to high rates of underdiagnosis and misdiagnosis. With advances in molecular genetics, extensive research has elucidated the pathogenic mechanisms of various genetic defects in CSNB, particularly those associated with early-onset myopia. These studies have also enhanced our understanding of retinal signal transduction and the pathogenesis of myopia. However, gene therapy for CSNB remains in its early stages. This review aims to comprehensively explore the disease spectrum of CSNB, including clinical manifestations, imaging and functional phenotypic characteristics across different subtypes, and associated genetic pathogenic mechanisms. We also summarize genotype-phenotype correlations, review the latest research advancements, and discuss future directions. By doing so, this review seeks to improve the understanding of CSNB among domestic researchers, provide guidance for clinical diagnosis and treatment, and offer new insights for future research.

青光眼不仅常见，而且严重损伤患者的视功能，被认定为全球首位不可逆致盲性眼病。仔细观察发现诊断不及时、治疗不合理、随诊不规律是导致青光眼患者致盲的常见原因。机会性筛查是临床早期发现青光眼患者的主要手段。为了提高筛查的效率，筛查时应当密切关注青光眼的高危人群，包括原发性青光眼患者的直系亲属、老年人群和高度近视患者。此外，要对发生青光眼全过程加深了解，无论是原发性闭角型青光眼，还是原发性开角型青光眼，其病情的进展都存在一个连续体概念。应当在青光眼患者出现症状或严重视功能损伤之前加以诊断。合理治疗应当包括应用适当的药物、激光或手术治疗，将每只患眼的眼压控制到与该眼的视盘和视野改变相适应的目标眼压范围内，尽量提高患者用药的依从性。对青光眼的持续性防治取决于是否有能力评估治疗效果以及发现病情的不稳定性状态，并加以恰当的处理。青光眼是可防可治的眼病。通过加强青光眼的早期诊断、合理治疗和长期随诊，可降低青光眼的致盲率，从而改变青光眼是首位致盲性眼病的现状。

Glaucoma not only is common, but also seriously damages the visual function of the patients, and is recognized as the first irreversible blinding disease in the world. After careful observation, we recognize that untimely diagnosis,unreasonable treatment and irregular follow-up are leading causes to blindness. Opportunistic screening is a main measure to early find the glaucoma in clinical practice. To improve the screening efficiency, the high-risk mass of glaucoma, such as immediate family members of glaucoma patients, older adults and high myopia should be closely focused. In addition, the ophthalmologists should understand the whole process of glaucoma. The development of the primary angle closure glaucoma or primary open angle glaucoma is a concept of continuum. We should make the diagnosis of glaucoma before the patients have any symptoms or serious damage of the visual function. Reasonable treatment should include controlling intraocular pressure in the scope of the target pressure adopting to the optic damage and visual field defect in that eye by drugs, laser or surgery, and as far as possible to improve the drug compliance. Sustained control of glaucoma management depends on the ability to assess the effect of treatment, and to find the instability of the disease and the appropriate management. Glaucoma is a preventable and treatable eye disease. We can decrease the blinding rate and change the current status of the first blinding eye disease for glaucoma.

角膜病是眼科常见疾病，治疗主要以病因治疗为主。角膜疾病治疗不及时会发展为角膜云翳、角膜斑翳、角膜白斑甚至丧失视力。本例患者主要是一例因外伤形成角膜白斑致使视力低下，于三峡大学附属仁和医院行自体穿透性角膜移植(autologous penetrating keratoplasty，APK)的特殊病例。

Keratoconus is a common disease in ophthalmology and treatment is mainly based on etiology. Untreated corneal diseases can develop into corneal clouding, corneal macula, corneal leukoplakia or even loss of vision. This is a special case of a patient who underwent autologous penetrating keratoplasty (APK) in our hospital for low vision due to traumatic formation of corneal leukoplakia.

目的：了解重度视力损伤和盲患者居家的主要护理问题及护理需求的内容，为医护人员制订居家照护支持计划提供依据。方法：采用描述性质性研究方法，于2020年4至9月对在广州市某三甲眼科专科医院的20例重度视力损伤和盲的住院患者进行面对面的半结构式访谈，采用归纳式内容分析法对访谈资料进行分析。结果：重度视力损伤和盲患者居家的主要护理问题有日常生活自理的能力缺失、外出社交活动受限和难以适应家庭角色的改变；护理需求包括希望医院提供多维度的疾病相关知识和提供多渠道的医疗咨询服务。结论：重度视力损伤和盲患者居家照护存在诸多的护理问题及需求，患者希望得到多维度相关知识和多渠道医疗咨询，医院、社区应该高度重视此类患者，同时给予相应的指导和帮助，从而提高患者的居家生活质量。

Objective: To explore the main nursing problems and demands of patients with severe visual impairment or blindness, so as to provide the basis for health staff to formulate home care support plans of high quality. Methods: By using a descriptive qualitative method, face-to-face semi-structured interviews were conducted among 20 patients with severe visual impairment or blindness who were hospitalized in the top-grade ophthalmic hospital in Guangzhou from April to September 2020. The inductive content analysis method was used to analyze the data. Results: The main nursing problems of these patients were the lack of self-care ability, limited social activities, and difficulty in adapting to changes in family roles. Nursing needs include the hope that hospitals can provide multidimensional disease-related knowledge and multi-channel medical consulting services. Conclusion: Patients with severe visual impairment or blindness have many problems and needs in home care. They would like to obtain multi-dimensional knowledge and receive multi-channel medical consultation. Health staff from hospitals and communities should attach great importance to these patients, as well as provide appropriate guidance and assistance, so as to improve their activities of daily living.