Ocular manifestations in Edward's syndrome, a case report and literature review

PURPOSE: To report a case with Edward's syndrome and ocular manifestations. METHODS: A three-year-old female visited our clinic. The diagnosis of Edward's Syndrome was made prior to the ophthalmic visit based on a karyotype study report. Complete ophthalmic evaluations were done for the patient. RESULTS: On the initial ophthalmic examination, bilateral ptosis, epicanthal folds, and 40 prism diopters alternate esotropia (ET) were seen. In the fundus examination, decreased red reflexes along with retinal folds, pigmentary retinopathy (patches of hyperpigmentation in the fovea and retinal periphery), and optic disc atrophy in both eyes were seen. CONCLUSION: Our case adds some evidence to the literature that ET may be one of the classic manifestations and anomalies in trisomy 18.