目的：分析单中心神经眼科疾病谱及流行病学特点，为指导神经眼科疾病诊断和治疗提供基础。方法：纳入2010年1月1日—2021年12月31日中国人民解放军总医院神经眼科病区收治的神经眼科疾病患者，从电子病例系统检索和记录所有纳入病例的年龄、性别、地区分布及病种亚型分析。结果：共计7245例神经眼科患者纳入统计，其中男性3331例(46.0%)、女性3914例(54.0%)，男女比例1∶1.2；年龄(38.2±17.5)岁。83.25%(6031/7245)为传入神经系统疾病，9.92%(719/7245)为传出神经系统疾病和眼眶疾病，6.83%(495/7245)未归类。病种分析显示，占比最高的是脱髓鞘性视神经炎(demyelinating optic neuritis,DON)，为40.17%(2910/7245)；占比第二的是非动脉炎性前部缺血性视神经病变(nonarteritic anterior ischemic optic neuropathy,NAION)，为11.37%(824/7245)；占比第三的是外伤性视神经病变5.15%(373/7245)，其中7.85%(569/7245)表现为不明原因视神经萎缩。从年龄分布来看，DON和外伤性视神经病变患者中18~40岁者占比最高(分别为48.63%和44.24%)，NAION患者中41~60岁者占比最高(66.14%)，小于18岁的未成年患者在遗传性视神经病变中占比最高，比例为48.58%。在2226例DON患者中，视神经脊髓炎(neuromyelitis optica,NMO)/视神经脊髓炎谱系疾病(neuromyelitis optica spectrum disorder,NMOSD)比例最高，为60.02%；髓鞘少突胶质细胞糖蛋白抗体(myelinoligodendrocyte glycoprotein antibody,MOG-IgG)阳性视神经炎比例为11.68%；多发性硬化(multiple sclerosis,MS)和MS相关性视神经炎和慢性复发性炎性视神经病变(chronic recurrent inflammatory optic neuropathy,CRION)占比较低，分别是1.8%和2.25%。DON整体患者中，男女比例为1∶3.08；在NMO/NMOSD患者中男女比例为1∶8；MOG阳性视神经炎患者中，男女比例为4∶5；在非典型视神经炎患者中，男性比例高于女性，为1.28∶1；DON患者中，81.79%患者为中青年，MOG阳性视神经炎未成年患者可达41.15%。结论：DON和NAION是神经眼科传入系统疾病最常见两大病种。

Objective: To analyze the spectrum and epidemiological characteristics of neuro-ophthalmic diseases from single center, and to provide basis for guiding the diagnosis and treatment of neuro-ophthalmic diseases. Methods: Patients with neuro-ophthalmic diseases admitted to the neuro-ophthalmology ward of Chinese PLA General Hospital from January 1, 2010 to December 31, 2021 were enrolled. The age, gender, regional distribution and disease subtypes of all included patients were retrieved and recorded from the electronic case system. Results: A total of 7245 patients with neuro-ophthalmic diseases were enrolled, including 3331 males(46.0%)and 3914 females(54.0%), with a male to female ratio of 1:1.2. The average age was 38.2±17.5 years. 83.25%(6031/7245)were afferent nervous system diseases, 9.92% (719/7245)were efferent nervous system diseases and orbital diseases, and 6.83%(495/7245)were not classified. The ratio of demyelinating optic neuritis(DON)was the highest(40.17%,2910/7245), followed by nonarteritic anterior ischemic optic neuropathy(NAION)(11.37%,824/7245)and traumatic optic neuropathy(TON) (5.15%,373/7245). The ratio of optic nerve atrophy with unknown causes was 7.85%(569/7245). Characteristics of age distribution, the DON and TON were more common in 18-40 age group(the proportion were 48.63% and 44.24%,respectively), the NAION was common in 41-60 age group(66.14%), and the hereditary optic neuropathy was common in younger 18 age group (48.58%). In 2226 DON patients, the proportion of neuromyelitis optica(NMO)/neuromyelitis optica spectrum disorder(NMOSD)-optic neuritis(ON)was the highest(60.02%)and myelinoligodendrocyte glycoprotein antibody(MOG-IgG)ON was 11.68%, while multiple sclerosis(MS)-ON and chronic recurrent inflammatory optic neuropathy(CRION)were relatively low(1.8% and 2.25%,respectively). In DON patients, the male to female ratio was 1:3.08. In NMO/NMOSD-ON patients, the ratio of male to female was 1:8, and that of MOG-ON was 4:5. In atypical ON, the ratio of male to female was higher than that of female(1.28:1). In DON patients, 81.79% of patients were young and middle-aged, and the proportion of children with MOG-ON(less than 18 years old)was 41.15%.Conclusions: DON and NAION are the two most common diseases of neuro-ophthalmic afferent system.

目的：分析天津市某眼科医院急诊病例疾病谱，为规范疾病诊断流程、合理分配急诊医疗资源提供循证依据。方法 回顾性分析2019年1月~2023年12月在天津市某眼科医院急诊科就诊患者的临床资料，包括一般人口学资料、就诊时间、季节分布及初步诊断等。结果：共纳入26 077例眼科急诊患者，男女比例为1.12∶1，年龄为（36.82±15.44）岁，就诊年龄大多分布在＜14岁（26.74%）及31~40岁（21.03%）；日就诊时间分布中：10:00~12:00（11.06%）、14:00~16:00（10.41%）及20:00~22:00（10.43%）就诊人数较多，05:00~07:00（4.83%）就诊人数较少；4月就诊人数最少（3.87%），8月就诊人数最多（11.61%），夏季就诊人数（31.74%）显著多于其他3个季节；眼科急诊患者最常见的10种初步诊断中结膜炎占比最多（39.58%），其次为干眼症（14.32%）；与2019年相比，2020年和2021年眼科急诊患者前10种初步诊断显著下降（均P<0.001，2020年95%CI为-0.98~-0.68、2021年95%CI为-0.54~-0.11）；与春季相比，其他季节眼科急诊患者前10种初步诊断显著下降（P均<0.001，夏季95%CI为-0.32~-0.08、秋季95%CI为-0.39~-0.14、冬季95%CI为-0.54~-0.30）。其中在结膜炎病例中，与春、夏季相比，冬季结膜炎病例分布呈显著下降趋势（P均<0.001，95%CI分别为-0.08~-0.03]、为-0.08~-0.04）；眼科急诊患者前10种初步诊断性别分布具有统计学意义（P＜0.001）；与14岁以下年龄段相比，其他年龄眼科急诊患者前10种初步诊断均呈下降趋势，（P均<0.001，14~20岁95%CI为-0.88~-0.43、21~30岁95%CI为-1.01~-0.65、31~40岁95%CI为-1.10~-0.82、41~50岁95%CI为-0.97~-0.66、51~60岁95%CI为-1.71~-1.38、61~70岁95%CI为-1.45~-1.08、71~80岁95%CI为-1.36~-0.80、>80岁95%CI为-1.44,-0.22）。结论：眼科急诊患者以儿童和中青年男性为主，14岁以下年龄段人群相比来说有较高风险；日就诊时间分布呈现出“三个高峰一个低谷”的显著特征，就诊高峰时段分别为10:00~12:00、14:00~16:00以及20:00~22:00，就诊低谷出现在05:00~07:00期间；眼科急诊中最常见的诊断主要是那些通常被认为是非紧急的诊断，即结膜炎和干眼症；结膜炎的发病呈现明显的季节性特征，春、夏季为高发期；与2019年相比，2020年和2021年眼科急诊就诊总量显著减少，其中以结膜炎和干眼症的就诊量减少尤为明显，2022年有一定程度的恢复。

Purpose：To analyze the disease spectrum of emergency cases at an ophthalmology hospital in Tianjin, offering evidence-based support for standardizing diagnostic procedures and rationing emergency medical resources. Methods: Reviewed clinical data of patients at the hospital's emergency department from January 2019 to December 2023, covering demographics, visit timings, seasonal distribution, and preliminary diagnoses. Results: A total of 26,077 ophthalmology emergency patients were included, with a male-to-female ratio of 1.12:1 and an average age of 36.82±15.44 years. Most patients were aged <14 years (26.74%) and 31~40 years (21.03%). Daily visits peaked at 10:00~12:00 (11.06%), 14:00~16:00 (10.41%), and 20:00~22:00 (10.43%), and were lowest at 05:00~07:00 (4.83%). April had the fewest visits (3.87%), August the most (11.61%), and summer accounted for the highest quarterly proportion (31.74%). The top 10 preliminary diagnoses were led by conjunctivitis (39.58%) and xerophthalmia (14.32%). Compared to 2019, the top 10 preliminary diagnoses dropped significantly in 2020 and 2021 (both P<0.001), 2020 95%CI[-0.98~-0.68]、2021 95%CI[-0.54~-0.11]. Similarly, these diagnoses were significantly lower in summer, autumn, and winter than in spring (all P<0.001), summer 95%CI[-0.32~-0.08]、autumn 95%CI[-0.39~-0.14]、winter 95%CI[-0.54~-0.30]. In conjunctivitis cases, winter incidence was significantly lower than in spring and summer (both P<0.001). Gender distribution in the top 10 diagnoses was statistically significant (P<0.001), 95%CI[-0.08~-0.03] and [-0.08~-0.04] . Compared to those aged <14, other age groups showed a downward trend in the top 10 preliminary diagnoses (all P<0.001), 14~20 95%CI[-0.88~-0.43]、21~30 95%CI[-1.01~-0.65]、31~40 95%CI[-1.10~-0.82]、41~50 95%CI[-0.97~-0.66]、51~60 95%CI[1.71~-1.38]、61~70 95%CI[-1.45~-1.08]、71~80 95%CI[-1.36~-0.80]、>80 95%CI[-1.44,-0.22].Conclusions: Ophthalmology emergency patients are mainly children and middle-aged men, with those <14 years old at higher risk. Visit times follow a "three-peak-one-valley" pattern. Most diagnoses are non-urgent conditions like conjunctivitis and xerophthalmia. Conjunctivitis shows marked seasonality, peaking in spring and summer. Total ophthalmology emergency visits declined in 2020 and 2021 versus 2019, particularly for conjunctivitis and xerophthalmia, partially recovering in 2022.

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.