DR. ANKITA KULKARNI

Dr.Dr Sirisha Vinzamuri, DR. SOUMYA RAMANI, DR. ANKITA KULKARNI

Abstract

We report a case of a 3-year-old child with achalasia cardia and repaired patent ductus arteriosus, polydactyly presenting with microphthalmos in the left eye associated with microcornea , iris coloboma and (ASDA-Anterior segment developmental anomalies) in both eyes. Family history revealed second-degree consanguinity and the sibling of the child was found to have megalocornea. All of the above findings show the possibility of a PAX 2 mutation or Okhiro/ Acro renal ocular (ARAS) syndrome which is transmitted by an autosomal dominant inheritance pattern. Thus, justifying the presence of anomalies in both the siblings. Here we would like to stress the importance of genetic counseling for the family to prevent the occurrence of further such conditions in the other children