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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Clark, BJ; Lowther, GW; Lee, WR

Published Date

  • January 1994

Published In

Volume / Issue

  • 31 / 1

Start / End Page

  • 41 - 45

PubMed ID

  • 8195962

International Standard Serial Number (ISSN)

  • 0191-3913

Digital Object Identifier (DOI)

  • 10.3928/0191-3913-19940101-09


  • eng

Conference Location

  • United States