Congenital Cataract and Narrow CSP: A Clue to Prenatal Diagnosis of RAB3GAP1-Associated Warburg Micro Syndrome

Abstract Warburg Micro Syndrome (WMS) is an autosomal recessive disorder characterized by intellectual disability, bilateral congenital cataracts, microphthalmia, and brain anomalies. We report 18-week fetus presenting with cataract narrow cavum septum pellucidum. Patient was counselled about the possible etiologies ranging from infectious to chromosomal single gene etiologies. Invasive testing for genetic analysis done determine etiology establish prognosis. A previously reported homozygous frameshift mutation identified in RAB3GAP1 leading diagnosis of WMS. This case highlights role detailed fetal sonography prognosticate pregnancies. Also WMS should be suspected fetuses or without