Congenital ocular defects associated with an abnormality of the human chromosome 1: trisomy 1q32-qter

Abstract

This article describes the detailed ocular pathology found in a premature neonate, born at 34 weeks, with multiple congenital anomalies resulting from de novo trisomy 1q32-qter. The ocular defects include goniodysgenesis, persistent tunica vasculosa lentis and hyaloid vessels, hypopigmentation of the posterior iris epithelium, ectopia of the ciliary processes, and abnormal insertion of the ciliary muscle and cataract. This is the first report of the detailed ocular pathology in a case of trisomy 1q and is also unusual in that the chromosomal defect has apparently arisen de novo in the proband.