DR.PRERNA GARG

DR. DUBEY SUNEETA, DR. JULIE PEGU

Abstract

Anterior segment dysgenesis includes conditions presenting with developmental anomaly of iris, trabecular meshwork, cornea and/or lens. In the CGRN classification, isolated trabeculo-dysgenesis falls under Primary Congenital Glaucoma, while the remaining are grouped under Glaucoma’s associated with non-acquired ocular +/- systemic anomalies. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity.

Mendelian inheritance refers to certain patterns of how traits are passed from parents to offspring. The pattern determines the dominant or recessive mode of inheritance. While appropriate importance is given to promptly detect and treat the symptomatic case, often the significance of examining the asymptomatic relatives, specially the first degree siblings and parents is forgotten. Here we present a series of interesting findings noted by examining the relative accompanying the patient.