Novel corneal features in two males with incontinentia pigmenti

Br J Ophthalmol. 2003 May;87(5):554-6. doi: 10.1136/bjo.87.5.554.

Abstract

Incontinentia pigmenti (IP) is a rare X linked genetic disorder, which predominantly affects females. The mutations are usually lethal in males. Two male cases are presented; a genetic mosaic for the common IP deletion and another in whom the genetic abnormality has not yet been characterised. Emphasis is placed on the ocular features present in this disorder and in particular a novel corneal feature and its possible aetiology.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Cornea / pathology*
  • Fluorescein Angiography
  • Gene Deletion
  • Humans
  • Incontinentia Pigmenti / genetics*
  • Incontinentia Pigmenti / pathology
  • Incontinentia Pigmenti / physiopathology
  • Infant
  • Male
  • Mutation / genetics
  • Retina / pathology
  • Visual Acuity / physiology
  • Vitreous Hemorrhage / etiology