Dr. Anant Singhi, Dr. Das Shubhra
A 3 month-old female presented with bilateral corneal opacity associated with mucopurulent discharge for last one and a half months. Clinical evaluation showed bilateral megalocornea with vascularized leucomatous corneal opacity along with central perforation in left eye. Systemic evaluation revealed moderate Atrial Septal defect. Her 32 year old mother and 7 year old elder sister also showed megalocornea. Mother’s vision was 6/18P and 6/6 in right and left eye respectively and her sister’s vision was 6/18P in both eyes. Subsequently on their slit lamp examination, posterior embryotoxon, correctopia and iris atrophic patches were seen in both. Gonioscopy showed iridocorneal strands with a prominent Schwalbe´s line. Telecanthus was noted. Fundoscopy and intraocular pressures were normal. Diagnosis of Familial Megalocornea with Anterior segment dysgenesis probably Axenfeld Rieger anomaly was made.