Ocular coloboma defects are a frequent source of eye-related issues in children and can lead to notable vision problems. Recent progress in this field has mainly focused on pinpointing numerous genetic mutations associated with the condition and uncovering various molecular pathways. This has not only enhanced our knowledge of the origins of ocular coloboma but has also deepened our understanding of normal eye development. Despite these advancements, a significant portion of isolated ocular coloboma cases still lack a definitive genetic or environmental explanation.