Abstract:

Aniridia is complete or partial iris defect that develops due to a defect in the PAX6 gene located on chromosome 11p13. Aniridia may be accompanied by ocular findings such as congenital cataract, congenital glaucoma, keratopathy or foveal aplasia. Epiblepharon is congenital eyelid anomaly with fully unknown etiopathogenesis. However, in the etiology of epiblepharon is thought that congenital skin fold anomaly and wrongly structured lower eyelid retractors. Its association with ophthalmologic diseases such as caroticocavernous fistula, thyroid ophthalmopathy, megalo ophthalmia and congenital glaucoma has also been reported. In this study, we aimed to present the diagnosis and treatment of epiblepharon developed in an East-Asian four-year-old male patient with congenital glaucoma due to aniridia. The patient had a history of atrial septal defect and had epiblepharon, aniridia, microspherophacia and cataract on both eyes. Surgical technique targeting the orbicular muscle with lower eye lid retractors was applied to this case due to epiblepharon.