Posterior axial corneal malformation and uveoretinal angiodysgenesis--a neurocristopathy?

Journal Article (Journal Article)

This clinicopathological report describes an unusual combination of axial corneal malformation and angiodysgenesis in the uvea, retina and optic nerve in three eyes. In each specimen there was hypocellularity in the posterior axial stroma, with corresponding loss of the corneal endothelium. The vascular malformation consisted of numerous telangiectatic endothelium-lined tubes with inconspicuous or absent media. One globe was obtained from a stillborn fetus (36 weeks) in which renal agenesis and a sireniform malformation (mermaid fetus) occurred in conjunction with a Fallot's tetralogy, pulmonary hypoplasia and atresia of the trachea and duodenum. Eyes with almost identical malformations were obtained from a 39-week female neonate who died after 5 h as a consequence of renal agenesis and pulmonary hypoplasia. This combination of ocular tissue malformations can be explained by embryological studies, which have shown that the corneal stroma and endothelium and the ocular periendothelial vascular tissues are derived from the neural crest.

Full Text

Duke Authors

Cited Authors

  • Mooy, CM; Clark, BJ; Lee, WR

Published Date

  • 1990

Published In

Volume / Issue

  • 228 / 1

Start / End Page

  • 9 - 18

PubMed ID

  • 2311950

International Standard Serial Number (ISSN)

  • 0721-832X

Digital Object Identifier (DOI)

  • 10.1007/BF02764283


  • eng

Conference Location

  • Germany