Management of Congenital Cataract Associated with Axenfeld Rieger Anomaly

Abstract

Rao Muhammad Arif Khan, Ashal Kaiser Pal and Abdul Qayyum

Anterior Segment Dysgenesis (ASD) represents a spectrum of developmental disease involving neural crest mesenchyme. Axenfeld anomaly refers to presence of posterior embryotoxon (anteriorly displaced schwalbe’s line) with attached iris strands. When these peripheral abnormalities are associated with iris changes such as corectopia or atrophy it is called Rieger’s anomaly. In association with systemic anomalies such as abnormal teeth and facial abnormalities, particularly hypertelorism, it is referred to as Rieger syndrome. Families with Axenfeld Rieger anomaly show an autosomal dominant pattern of inheritance. Gene loci have been mapped to 4q25 (PITX2 gene), 6p25 (FKHL7) and 13q14 (RIEG2). Axenfeld Rieger anomaly has no gender predilection and there is associated glaucoma. 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 Axenfeld Rieger anomaly is reported, so this is probably the first case report.

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