Xu Qingdan, Zhou Yiwen, Chen Junyi, Kong Xiangmei, Ling Zhihong, Wang Jiajian, Dai Yi, Yu Xiaobo, Wang Li, Sun Xinghuai, Chen Yuhong
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.
NHC Key Laboratory of Myopia, Chinese Academy of Medical Sciences, Fudan University, Shanghai, China.
Quant Imaging Med Surg. 2024 Dec 5;14(12):9021-9035. doi: 10.21037/qims-24-875. Epub 2024 Nov 29.
Anterior segment dysgenesis (ASD) encompasses a range of congenital disorders affecting the development of the eye's anterior segment, often leading to significant visual impairment and glaucoma. Although numerous studies have focused on the genetic basis of ASD, few have comprehensively compared the clinical features across ASD subtypes. This study aims to address this gap by describing and comparing the clinical characteristics and ultrasound biomicroscopy (UBM) imaging features of various ASD subtypes in a Chinese tertiary medical center.
A retrospective review of medical records was conducted for hospitalized patients diagnosed with ASD in the Eye & ENT Hospital, Fudan University between January 2013 and December 2022. Patients were enrolled consecutively. Demographic data, clinical manifestations, and UBM images of various ASD subtypes were analyzed.
A total of 1,031 patients were included in the analysis. Primary congenital glaucoma (PCG) was the most prevalent, affecting 396 patients (625 eyes), whereas congenital ectropion uveae (CEU) was the rarest, affecting 8 patients (13 eyes). All subtypes exhibited a spectrum of characteristic clinical manifestations. UBM imaging revealed distinct anterior segment abnormalities characteristic of each subtype. Trabeculodysgenesis was implicated in glaucoma pathogenesis across multiple ASDs, including PCG, aniridia, Axenfeld-Rieger syndrome, Peters anomaly, CEU, iris coloboma, and microcornea, whereas persistent fetal vasculature and congenital fibrovascular pupillary membrane exhibited completely closed angles in glaucomatous eyes.
Our study provides comprehensive insights into the clinical features and UBM characteristics of ASD subtypes, enhancing diagnostic accuracy and guiding appropriate interventions.
眼前节发育异常（ASD）涵盖了一系列影响眼球前段发育的先天性疾病，常导致严重视力损害和青光眼。尽管众多研究聚焦于ASD的遗传基础，但很少有研究全面比较ASD各亚型的临床特征。本研究旨在通过描述和比较中国一家三级医疗中心不同ASD亚型的临床特征及超声生物显微镜（UBM）成像特征来填补这一空白。
对2013年1月至2022年12月在复旦大学附属眼耳鼻喉科医院住院诊断为ASD的患者病历进行回顾性分析。患者连续入选。分析各ASD亚型的人口统计学数据、临床表现及UBM图像。
共1031例患者纳入分析。原发性先天性青光眼（PCG）最为常见，累及396例患者（625只眼），而先天性葡萄膜外翻（CEU）最为罕见，累及8例患者（13只眼）。所有亚型均表现出一系列特征性临床表现。UBM成像显示了各亚型独特的眼前节异常特征。小梁发育异常与多种ASD的青光眼发病机制有关，包括PCG、无虹膜、Axenfeld-Rieger综合征、彼得斯异常、CEU、虹膜缺损和小角膜，而持续性胎儿血管和先天性纤维血管性瞳孔膜在青光眼眼中表现为完全闭合的房角。
我们的研究为ASD亚型的临床特征和UBM特征提供了全面见解，提高了诊断准确性并指导了适当的干预措施。
