Tilted disc syndrome (TDS) is a congenital retinal abnormality characterized primarily by the abnormal shape and position of the optic disc. Its typical presentation includes an oval-shaped optic disc that is tilted downward or nasally, accompanied by developmental anomalies of the surrounding choroid and retinal pigment epithelium. These anatomical changes can have profound effects on the visual function of patients and may lead to a range of ocular complications, such as peripapillary hyper reflective ovoid mass-like structures (PHOMS), choroidal vascular lesions, and macular region pathologies. In the diagnostic process of TDS, a combination of methods is typically employed, including fundus examination, optical coherence tomography (OCT), and visual field testing, to comprehensively assess the morphology and function of the optic disc. Despite years of research on TDS, its exact pathogenesis remains not fully understood. Existing studies suggest that genetic factors, developmental abnormalities, and environmental influences may play significant roles in the occurrence of TDS. Furthermore, the relationship between TDS and other ocular diseases is also a current area of research interest. For instance, conditions such as myopic tilted disc, optic edema, papilledema and optic nerve tumors often require differential diagnosis in clinical practice to ensure that patients receive accurate diagnoses and appropriate treatments. This review aims to provide a comprehensive overview of the research progress on TDS, including its definition, epidemiological characteristics, pathophysiological mechanisms, associated visual function abnormalities, diagnostic methods, and related complications. The goal is to enhance clinical understanding of the features and mechanisms of this condition, thereby providing more comprehensive guidance for the clinical management and treatment strategies for patients.
