Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: Our study provides comprehensive insights into the clinical features and UBM characteristics of ASD subtypes, enhancing diagnostic accuracy and guiding appropriate interventions.