Brittle cornea syndrome: a case report and review of the literature

BMC Ophthalmol. 2018 Sep 18;18(1):252. doi: 10.1186/s12886-018-0903-2.


Background: To report a patient who presented with bluish scleral discoloration, keratoconus, and progressive high myopia.

Case presentation: A 6-year-old Chinese female patient presented with a significant bluish discoloration of the sclera in both eyes and extreme corneal thinning with anterior corneal protrusion. General pediatric physical examination was normal for all systems and no genetic disorders known were observed.

Conclusions: We aim to highlight the importance of diagnosis and treatment of patients suffering from Brittle cornea syndrome. Timely diagnosis and early provision of protective glasses seem to be the most important step in treating BCS. To our knowledge, this is the first case of BCS being reported in the Asia area.

Keywords: Blue sclera; Brittle cornea syndrome; Case report; Keratoconus; Literature review.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Diagnosis, Differential
  • Eye Abnormalities / pathology*
  • Eye Abnormalities / therapy
  • Eye Protective Devices
  • Eyeglasses
  • Female
  • Humans
  • Joint Instability / congenital*
  • Joint Instability / pathology
  • Joint Instability / therapy
  • Keratoconus / pathology
  • Myopia, Degenerative / pathology
  • Sclera / pathology
  • Skin Abnormalities / pathology*
  • Skin Abnormalities / therapy

Supplementary concepts

  • Brittle cornea syndrome 1