Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome

J AAPOS. 2014 Oct;18(5):509-11. doi: 10.1016/j.jaapos.2014.06.013. Epub 2014 Sep 27.

Abstract

We report a 6-week-old white boy of nonconsanguineous parents who presented with bluish scleral discoloration, thin corneas, and progressive high myopia. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis and prompt measures were taken to manage the condition. Long-term follow-up of children diagnosed with brittle cornea syndrome is important to minimize the risks of corneal rupture and for detecting late-onset systemic conditions.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Corneal Diseases / complications*
  • Corneal Diseases / diagnosis
  • Corneal Diseases / therapy
  • DNA Mutational Analysis
  • Ehlers-Danlos Syndrome / complications*
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / therapy
  • Eye Abnormalities
  • Eye Protective Devices
  • Gene Deletion
  • Humans
  • Infant
  • Joint Instability / congenital
  • Male
  • Myopia, Degenerative / diagnosis
  • Point Mutation / genetics
  • Polymerase Chain Reaction
  • Scleral Diseases / diagnosis
  • Skin Abnormalities
  • Transcription Factors / genetics

Substances

  • Transcription Factors
  • ZNF469 protein, human

Supplementary concepts

  • Brittle cornea syndrome 1