Rare Association of Posterior Embryotoxon With Maxillary Hypoplasia, Ventricular Septal Defect, Pulmonary Atresia and Patent Ductus Arteriosus

Abstract

BACKGROUND:Posterior embryotoxon is a congenital anomaly, considered to be a relatively mild disorder and can occur in 15% of normal eyes. Bilateral posterior embryotoxon associated with maxillary hypoplasia, Ventricular Septal Defect (VSD), Pulmonary Atresia (PA) with Patent Ductus Arteriosus (PDA) is of rare occurrence and hasn't been reported in literature till date. CASE: We report a case of 12 year old female who came to us in eye Out Patient Department for routine eye checkup and on detailed ocular examination we found anteriorly displaced Schwalbe's line. On detailed physical examination and investigations she was found to have pan-systolic murmur and continuous machinery murmur. On Echocardiography, the patient was found to have large perimembranous VSD with PA and PDA. On Oro-dental examination she was found to have maxillary hypoplasia. CONCLUSION: The present case is reported due to the rarity and sporadic character of the condition and its rare association with cardiac defect and maxillary hypoplasia.