Tilted disc syndrome (TDS) is considered a congenital anomaly due to a delayed closure of the embryonic fissure. It is characterized by an oblique orientation of the axis of the optic disc, associated with other posterior pole anomalies such as inferior crescent, situs inversus and inferior staphyloma. The aim of this review was to summarize the data supporting the current hypotheses for the pathogenesis of TDS, and its anatomical and functional clinical consequences. Recent imaging techniques, such as magnetic resonance imaging, wide-field fundus imaging, and 2- and 3-D optical coherence tomography have provided a new perspective on TDS and its complications. Different abnormalities have previously been reported, both in the anterior and posterior segments. The focus was on vision-threatening chorioretinal changes or complications, including choroidal neovascularization and serous retinal detachments and their therapeutic options. Based on clinical observations, assumptions were proposed to understand the occurrence of complications such as chorioretinal degenerative changes, choroidal neovascularization and polypoidal choroidal vasculopathy, macular serous retinal detachment, myopic foveoschisis and chorioretinal folds. These hypotheses could be referred to as the curvature “breaking point” hypothesis, the uneven growth “tractional” hypothesis, the “container-content” imbalance hypothesis, and the “choroidal funnel” hypothesis. Because these complications could also occur in other contexts, understanding the pathogenesis of TDS complications could help to understand their pathophysiology.

由于胚胎裂隙延迟闭合，倾斜椎间盘综合征 (TDS) 被认为是先天性异常。它的特点是视盘轴的倾斜方向，与其他后极异常有关，如下新月、内脏倒置和下葡萄肿。本综述的目的是总结支持当前 TDS 发病机制及其解剖学和功能性临床后果假设的数据。最近的成像技术，如磁共振成像、宽视野眼底成像和 2-D 和 3-D 光学相干断层扫描，为 TDS 及其并发症提供了新的视角。先前已经报道了前段和后段的不同异常。重点是威胁视力的脉络膜视网膜变化或并发症，包括脉络膜新生血管和浆液性视网膜脱离及其治疗选择。根据临床观察，提出了一些假设来理解脉络膜视网膜退行性变化等并发症的发生，脉络膜新生血管和息肉状脉络膜血管病变、黄斑浆液性视网膜脱离、近视性中心凹劈裂和脉络膜视网膜皱襞。这些假说可称为曲率“断点”假说、生长不均“牵引”假说、“容器-内容物”不平衡假说和“脉络膜漏斗”假说。因为这些并发症也可能发生在其他情况下，了解 TDS 并发症的发病机制有助于了解其病理生理学。