Management of congenital cataract associated with Axenfeld Rieger Anomaly

Abstract

Anterior Segment Dysgenesis(ASD) represents  a spectrum of developmental disease involving neural crest mesenchyme¹.Axenfeld anomaly refers to presence of posterior embryotoxon (anteriorly displaced Schwalbe’s line) with attached iris strands¹.When these peripheral abnormalities are associated with iris changes such as corectopia or atrophy it is called Rieger’s anomaly¹.In association with systemic anomalies  such as abnormal teeth  and facial abnormalities ,particularly hypertelorism, it is referred to as Rieger syndrome¹.Families with Axenfeld Rieger anomaly show an autosomal dominant pattern of inheritance¹.Gene loci have been mapped to 4q25(PITX2 gene),6p25(FKHL7) and  13q14(RIEG2)².AxenfeldRieger anomaly has no gender predilection and there is associated glaucoma².Cataract is not an association with it. We report a case of anterior segment dysgenesis with associated congenital cataract but no congenital glaucoma, managed by lens aspiration, primary posterior capsulotomy and deep anterior vitrectomy. To our knowledge no case of congenital cataract with associated AxenfeldRieger anomaly is reported, so this is probably the first case report.